GWAS Catalog of human genome-wide association studies
English
United Kingdom, Cambridge
GWAS
数据描述
As of 2025-06-27, the GWAS Catalog contains 7286 publications, 891200 top associations and 136189 full summary statistics. GWAS Catalog data is currently mapped to Genome Assembly GRCh38.p14 and dbSNP Build 156.
www.ebi.ac.uk
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相关论文
302Multi-ancestry genome-wide association and integrated multi-omics analyses of endometriosis and its clinical manifestations
Dora Koller•Jun He•Solveig Løkhammer•Selena Aranda•Dan Qiu等 17 人
Nature Genetics
2026
•2026/4/29
•00 p.1-11
Endometriosis is a chronic systemic disease affecting ~10% of women, yet its genetic basis and molecular mechanisms remain poorly understood. Hence, here we conducted a genome-wide association study of endometriosis and adenomyosis in ~1.4 million women, including 105,869 cases, aiming to expand loc...
Genetics researchGenome-wide association studiesReproductive disorders
10.1038/S41588-026-02582-2
ISSN:1061-4036
Efficient candidate drug target discovery through proteogenomics in a Scottish cohort
Jurgis Kuliesius•Paul R. H. J. Timmers•Pau Navarro•Lucija Klaric•James F. Wilson
Communications Biology
2025
•2025/8/29
•Vol.8 No.1 p.1-14
Understanding the genomic basis of human proteomic variability provides powerful tools to probe potential causal relationships of proteins and disease risk, and thus to prioritise candidate drug targets. Here, we investigated 6432 plasma proteins (1533 previously unstudied in large-scale proteomic G...
Genome-wide association studiesPopulation geneticsProteomicsTarget identification
10.1038/S42003-025-08738-W
ISSN:2399-3642
Integrative analysis reveals RNA G-quadruplexes in UTRs are selectively constrained and enriched for functional associations
David S. M. Lee•Louis R. Ghanem•Yoseph Barash
Nature Communications
2020
•2020/1/27
•Vol.11 No.1 p.1-12
G-quadruplex (G4) sequences are abundant in untranslated regions (UTRs) of human messenger RNAs, but their functional importance remains unclear. By integrating multiple sources of genetic and genomic data, we show that putative G-quadruplex forming sequences (pG4) in 5’ and 3’ UTRs are selectively ...
Genetic association studyGenetic variationRNARNA folding
10.1038/S41467-020-14404-Y
ISSN:2041-1723
The genetic architecture of multimodal human brain age
Junhao Wen•Bingxin Zhao•Zhijian Yang•Guray Erus•Ioanna Skampardoni等 18 人
Nature Communications
2024
•2024/3/23
•Vol.15 No.1 p.1-15
The complex biological mechanisms underlying human brain aging remain incompletely understood. This study investigated the genetic architecture of three brain age gaps (BAG) derived from gray matter volume (GM-BAG), white matter microstructure (WM-BAG), and functional connectivity (FC-BAG). We ident...
Genetics researchMachine learningPredictive markers
10.1038/S41467-024-46796-6
ISSN:2041-1723
Low input capture Hi-C (liCHi-C) identifies promoter-enhancer interactions at high-resolution
Tomás-Daza Laureano•Rovirosa Llorenç•López-Martí Paula•Nieto-Aliseda Andrea•Serra François等 16 人
Nature Communications
2023
•2023/1/17
•Vol.14 No.1 p.1-16
Long-range interactions between regulatory elements and promoters are key in gene transcriptional control; however, their study requires large amounts of starting material, which is not compatible with clinical scenarios nor the study of rare cell populations. Here we introduce low input capture Hi-...
Chromatin analysisChromatin structure
10.1038/S41467-023-35911-8
ISSN:2041-1723
Identification of ephrin-A1–EphA2 signalling as a potential target for fracture prevention
Sofia Movérare-Skrtic•Maria Nethander•Lei Li•Nelson Tsz Long Chu•Ostap Dregval等 11 人
Nature Communications
2026
•2026/2/21
•Vol.17 No.1 p.19880
Osteoporotic fractures are a major global health burden. To uncover potential targets for fracture prevention, we use a proteome-wide Mendelian randomization (MR) approach combined with colocalization. Here we show that nine circulating proteins associate with forearm fracture risk, including sclero...
Genetics researchTranslational research
10.1038/S41467-026-69863-6
ISSN:2041-1723
Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris
Brittany L. Mitchell•Michelle K. Lupton•Miguel E. Rentería•Michael A. Simpson•William R. Reay
European Journal Of Human Genetics
2026
•2026/2/4
•Vol.34 No.4 p.565-573
Observational epidemiology suggests a link between the dermatological disorder acne vulgaris and several psychiatric disorders. However, the biological mechanisms that underlie the relationship between acne and mental health are poorly characterised. Here, we employed a genetic approach using large-...
Genome-wide association studiesGenomicsPsychiatric disordersRisk factors
10.1038/S41431-026-02028-7
ISSN:1018-4813
Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer’s disease
Daniel Western•Jigyasha Timsina•Lihua Wang•Ciyang Wang•Chengran Yang等 40 人
Nature Genetics
2024
•2024/11/11
•00 p.1-13
The integration of quantitative trait loci (QTLs) with disease genome-wide association studies (GWASs) has proven successful in prioritizing candidate genes at disease-associated loci. QTL mapping has been focused on multi-tissue expression QTLs or plasma protein QTLs (pQTLs). We generated a cerebro...
Genome-wide association studiesGenomics
10.1038/S41588-024-01972-8
ISSN:1061-4036
Genome-wide association study unravels mechanisms of brain glymphatic activity
Shu-Yi Huang•Yi-Jun Ge•Peng Ren•Bang-Sheng Wu•Weikang Gong等 20 人
Nature Communications
2025
•2025/1/13
•Vol.16 No.1 p.1-17
Brain glymphatic activity, as indicated by diffusion-tensor imaging analysis along the perivascular space (ALPS) index, is involved in developmental neuropsychiatric and neurodegenerative diseases, but its genetic architecture is poorly understood. Here, we identified 17 unique genome-wide significa...
Diseases of the nervous systemGenetics of the nervous systemNeurological disordersNeurology
10.1038/S41467-024-55706-9
ISSN:2041-1723
Multivariate genetic analysis reveals three distinct pathological dimensions in musculoskeletal disorders
Weiming Gong•Yantong Guo•Xiubin Sun•Shukang Wang•Fuzhong Xue等 9 人
Nature Communications
2026
•2026/4/21
0The substantial overlap in symptoms and pathology across musculoskeletal disorders underscores the need to investigate their shared genetic mechanism. Using multivariate genetic modeling, we identify three distinct pathological factors, including a degenerative musculoskeletal disorder factor, a bon...
Computational biology and bioinformaticsGenetic association studyMusculoskeletal abnormalities
10.1038/S41467-026-72164-7
ISSN:2041-1723
Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases
Ritchie Scott C.•Lambert Samuel A.•Arnold Matthew•Teo Shu Mei•Lim Sol等 25 人
Nature Metabolism
2021
•2021/11/8
•Vol.3 No.11 p.1476-1483
Cardiometabolic diseases are frequently polygenic in architecture, comprising a large number of risk alleles with small effects spread across the genome1–3. Polygenic scores (PGS) aggregate these into a metric representing an individual’s genetic predisposition to disease. PGS have shown promise for...
Functional genomicsMetabolismPopulation geneticsType 2 diabetesVascular diseases
10.1038/S42255-021-00478-5
ISSN:2522-5812
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
Koji M. Nishiguchi•Fuyuki Miya•Yuka Mori•Kosuke Fujita•Masato Akiyama等 25 人
Communications Biology
2021
•2021/1/29
•Vol.4 No.1 p.1-12
The genetic basis of Japanese autosomal recessive retinitis pigmentosa (ARRP) remains largely unknown. Herein, we applied a 2-step genome-wide association study (GWAS) in 640 Japanese patients. Meta-GWAS identified three independent peaks at P < 5.0 × 10−8, all within the major ARRP gene EYS. Two of...
Genome-wide association studiesHereditary eye disease
10.1038/S42003-021-01662-9
ISSN:2399-3642
Patterns of de novo tandem repeat mutations and their role in autism
Ileena Mitra•Bonnie Huang•Nima Mousavi•Nichole Ma•Michael Lamkin等 9 人
Nature
2021
•2021/1/13
•Vol.589 No.7841 p.246-250
Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by deficits in communication and social interaction and restrictive or repetitive behaviours1,2. Family studies demonstrate that ASD has a substantial genetic basis with contributions both from inherited and de nov...
Autism spectrum disordersGenetic variationMutationStatistical methods
10.1038/S41586-020-03078-7
ISSN:0028-0836
Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction
Ruidong Xiang•Chief Ben-Eghan•Yang Liu•David Roberts•Scott Ritchie等 9 人
Nature Communications
2025
•2025/5/7
•Vol.16 No.1 p.1-12
Blood cell phenotypes are routinely tested in healthcare to inform clinical decisions. Genetic variants influencing mean blood cell phenotypes have been used to understand disease aetiology and improve prediction; however, additional information may be captured by genetic effects on observed varianc...
EpidemiologyGenome-wide association studiesMedical genetics
10.1038/S41467-025-59525-4
ISSN:2041-1723
The genetic architecture of structural left–right asymmetry of the human brain
Zhiqiang Sha•Dick Schijven•Amaia Carrion-Castillo•Marc Joliot•Bernard Mazoyer等 8 人
Nature Human Behaviour
2021
•2021/3/15
•00 p.1-14
Left–right hemispheric asymmetry is an important aspect of healthy brain organization for many functions including language, and it can be altered in cognitive and psychiatric disorders. No mechanism has yet been identified for establishing the human brain’s left–right axis. We performed multivariat...
Behavioural geneticsGenetics of the nervous systemGenome-wide association studiesMagnetic resonance imagingPsychiatric disorders
10.1038/S41562-021-01069-W
ISSN:2397-3374
Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases
Kundu Kousik•Tardaguila Manuel•Mann Alice L.•Watt Stephen•Ponstingl Hannes等 14 人
Nature Genetics
2022
•2022/3/14
•Vol.54 No.3 p.251-262
The resolution of causal genetic variants informs understanding of disease biology. We used regulatory quantitative trait loci (QTLs) from the BLUEPRINT, GTEx and eQTLGen projects to fine-map putative causal variants for 12 immune-mediated diseases. We identify 340 unique loci that colocalize with h...
Genome informaticsGenomics
10.1038/S41588-022-01025-Y
ISSN:1061-4036
Characterization of the COPD alveolar niche using single-cell RNA sequencing
Sauler Maor•McDonough John E.•Adams Taylor S.•Kothapalli Neeharika•Barnthaler Thomas等 26 人
Nature Communications
2022
•2022/1/25
•Vol.13 No.1 p.1-17
Chronic obstructive pulmonary disease (COPD) is a leading cause of death worldwide, however our understanding of cell specific mechanisms underlying COPD pathobiology remains incomplete. Here, we analyze single-cell RNA sequencing profiles of explanted lung tissue from subjects with advanced COPD or...
Cellular signalling networksChronic obstructive pulmonary diseaseMechanisms of diseaseRNA sequencingTranslational research
10.1038/S41467-022-28062-9
ISSN:2041-1723
Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulation
Sébastien Thériault•Zhonglin Li•Erik Abner•Jian’an Luan•Hasanga D. Manikpurage等 22 人
Nature Communications
2024
•2024/3/18
•Vol.15 No.1 p.1-14
There is currently no medical therapy to prevent calcific aortic valve stenosis (CAVS). Multi-omics approaches could lead to the identification of novel molecular targets. Here, we perform a genome-wide association study (GWAS) meta-analysis including 14,819 cases among 941,863 participants of Europ...
Cardiovascular geneticsGene expressionGenome-wide association studies
10.1038/S41467-024-46639-4
ISSN:2041-1723
Synergistic insights into human health from aptamer- and antibody-based proteomic profiling
Pietzner Maik•Wheeler Eleanor•Carrasco-Zanini Julia•Kerrison Nicola D.•Oerton Erin等 11 人
Nature Communications
2021
•2021/11/24
•Vol.12 No.1 p.1-13
Affinity-based proteomics has enabled scalable quantification of thousands of protein targets in blood enhancing biomarker discovery, understanding of disease mechanisms, and genetic evaluation of drug targets in humans through protein quantitative trait loci (pQTLs). Here, we integrate two partly c...
Blood proteinsDiseasesProteomic analysisQuantitative trait loci
10.1038/S41467-021-27164-0
ISSN:2041-1723
Investigating grey matter volumetric trajectories through the lifespan at the individual level
Runye Shi•Shitong Xiang•Tianye Jia•Trevor W. Robbins•Jujiao Kang等 33 人
Nature Communications
2024
•2024/7/15
•Vol.15 No.1 p.1-14
Adolescents exhibit remarkable heterogeneity in the structural architecture of brain development. However, due to limited large-scale longitudinal neuroimaging studies, existing research has largely focused on population averages, and the neurobiological basis underlying individual heterogeneity rem...
Computational neuroscienceDevelopment of the nervous system
10.1038/S41467-024-50305-0
ISSN:2041-1723
GWAS-by-subtraction reveals an IOP-independent component of primary open angle glaucoma
Yu Huang•Denis Plotnikov•Huan Wang•Danli Shi•Cong Li等 14 人
Nature Communications
2024
•2024/10/17
•Vol.15 No.1 p.1-15
The etiology of primary open angle glaucoma is constituted by both intraocular pressure-dependent and intraocular pressure-independent mechanisms. However, GWASs of traits affecting primary open angle glaucoma through mechanisms independent of intraocular pressure remains limited. Here, we address t...
Genome-wide association studiesGlaucomaHereditary eye disease
10.1038/S41467-024-53331-0
ISSN:2041-1723
Unsupervised deep representation learning enables phenotype discovery for genetic association studies of brain imaging
Khush Patel•Ziqian Xie•Hao Yuan•Sheikh Muhammad Saiful Islam•Yaochen Xie等 15 人
Communications Biology
2024
•2024/4/5
•Vol.7 No.1 p.1-14
Understanding the genetic architecture of brain structure is challenging, partly due to difficulties in designing robust, non-biased descriptors of brain morphology. Until recently, brain measures for genome-wide association studies (GWAS) consisted of traditionally expert-defined or software-derive...
Computational biology and bioinformaticsGenetic association study
10.1038/S42003-024-06096-7
ISSN:2399-3642
Integrating genetics and transcriptomics to characterize shared mechanisms in digestive diseases and psychiatric disorders
Huanxin Ding•Yue Jiang•Qing Sun•Yingchao Song•Shuohui Dong等 17 人
Communications Biology
2025
•2025/1/14
•Vol.8 No.1 p.1-14
Digestive and psychiatric disorders tend to co-occur, yet mechanisms remain unclear. Leveraging genetic and transcriptomic data integration, we conduct multi-trait analysis of GWAS (MTAG) and weighted gene co-expression network analysis (WGCNA) to explore shared mechanism between psychiatric and gas...
Computational biology and bioinformaticsGenetics
10.1038/S42003-025-07481-6
ISSN:2399-3642
Exploiting pleiotropy to enhance variant discovery with functional false discovery rates
Andrew J. Bass•Chris Wallace
Nature Computational Science
2025
•2025/8/22
•00 p.1-13
The cost of recruiting participants for genome-wide association studies (GWASs) can limit sample sizes and hinder the discovery of genetic variants. Here we introduce the surrogate functional false discovery rate (sfFDR) framework that integrates summary statistics of related traits to increase powe...
Genome-wide association studiesStatistical methods
10.1038/S43588-025-00852-3
ISSN:2662-8457
Mendelian randomization of genetically independent aging phenotypes identifies LPA and VCAM1 as biological targets for human aging
Timmers Paul R. H. J.•Tiys Evgeny S.•Sakaue Saori•Akiyama Masato•Kiiskinen Tuomo T. J.等 16 人
Nature Aging
2022
•2022/1/20
•Vol.2 No.1 p.19-30
Length and quality of life are important to us all, yet identification of promising drug targets for human aging using genetics has had limited success. In the present study, we combine six European-ancestry genome-wide association studies of human aging traits—healthspan, father and mother lifespan...
AgeingGenome-wide association studiesQuantitative trait
10.1038/S43587-021-00159-8
ISSN:2662-8465
Consensus meta-analysis of genome-wide association studies for Alzheimer’s disease and related dementias
Nature Genetics
2026
•2026/6/3
•00 p.1-12
To better characterize the genetic architecture underlying Alzheimer’s disease (AD) and related dementias (ADRD), we performed a meta-analysis of European-ancestry genome-wide association studies in 128,681 cases or proxy cases of ADRD and 849,833 (proxy) controls. We identified 91 genetic loci asso...
Alzheimer's diseaseGenome-wide association studies
10.1038/S41588-026-02583-1
ISSN:1061-4036
Machine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology
Anand E. Rajesh•Abraham Olvera-Barrios•Alasdair N. Warwick•Yue Wu•Kelsey V. Stuart等 22 人
Nature Communications
2025
•2025/1/2
•Vol.16 No.1 p.1-14
Few metrics exist to describe phenotypic diversity within ophthalmic imaging datasets, with researchers often using ethnicity as a surrogate marker for biological variability. We derived a continuous, measured metric, the retinal pigment score (RPS), that quantifies the degree of pigmentation from a...
Genome-wide association studiesMachine learningOutcomes research
10.1038/S41467-024-55198-7
ISSN:2041-1723
Observational and genetic evidence disagree on the association between loneliness and risk of multiple diseases
Yannis Yan Liang•Mingqing Zhou•Yu He•Weijie Zhang•Qiqi Wu等 11 人
Nature Human Behaviour
2024
•2024/9/16
•00 p.1-13
Loneliness—the subjective experience of social disconnection—is now widely regarded as a health risk factor. However, whether the associations between loneliness and multiple diseases are consistent with causal effects remains largely unexplored. Here we combined behavioural, genetic and hospitaliza...
DiseasesRisk factors
10.1038/S41562-024-01970-0
ISSN:2397-3374
Plasma proteome variation and its genetic determinants in children and adolescents
Lili Niu•Sara Elizabeth Stinson•Louise Aas Holm•Morten Asp Vonsild Lund•Cilius Esmann Fonvig等 15 人
Nature Genetics
2025
•2025/2/19
•Vol.57 No.3 p.635-646
Our current understanding of the determinants of plasma proteome variation during pediatric development remains incomplete. Here, we show that genetic variants, age, sex and body mass index significantly influence this variation. Using a streamlined and highly quantitative mass spectrometry-based pr...
Genome-wide association studiesMass spectrometryProteomics
10.1038/S41588-025-02089-2
ISSN:1061-4036
Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience
Sean J. Jurgens•Joel T. Rämö•Daria R. Kramarenko•Leonoor F. J. M. Wijdeveld•Jan Haas等 58 人
Nature Genetics
2024
•2024/11/21
•00 p.1-10
Dilated cardiomyopathy (DCM) is a heart muscle disease that represents an important cause of morbidity and mortality, yet causal mechanisms remain largely elusive. Here, we perform a large-scale genome-wide association study and multitrait analysis for DCM using 9,365 cases and 946,368 controls. We ...
CardiomyopathiesGenome-wide association studiesHeart failure
10.1038/S41588-024-01975-5
ISSN:1061-4036
Genome-wide association study in 8,956 German individuals identifies influence of ABO histo-blood groups on gut microbiome
Malte Christoph Rühlemann•Britt Marie Hermes•Corinna Bang•Shauni Doms•Lucas Moitinho-Silva等 24 人
Nature Genetics
2021
•2021/1/18
•Vol.53 No.2 p.147-155
The intestinal microbiome is implicated as an important modulating factor in multiple inflammatory1,2, neurologic3 and neoplastic diseases4. Recent genome-wide association studies yielded inconsistent, underpowered and rarely replicated results such that the role of human host genetics as a contribu...
Genetic association studyGeneticsGenome-wide association studiesInflammatory bowel diseaseMicrobiology
10.1038/S41588-020-00747-1
ISSN:1061-4036
Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes
Amanda Elliott•Raymond K. Walters•Matti Pirinen•Mitja Kurki•Nella Junna等 21 人
Nature Genetics
2024
•2024/1/5
•00 p.1-6
Gestational diabetes mellitus (GDM) is a common metabolic disorder affecting more than 16 million pregnancies annually worldwide1,2. GDM is related to an increased lifetime risk of type 2 diabetes (T2D)1–3, with over a third of women developing T2D within 15 years of their GDM diagnosis. The disease...
Genome-wide association studiesGestational diabetesType 2 diabetes
10.1038/S41588-023-01607-4
ISSN:1061-4036
A cross-population atlas of genetic associations for 220 human phenotypes
Sakaue Saori•Kanai Masahiro•Tanigawa Yosuke•Karjalainen Juha•Kurki Mitja等 46 人
Nature Genetics
2021
•2021/9/30
•Vol.53 No.10 p.1415-1424
Current genome-wide association studies do not yet capture sufficient diversity in populations and scope of phenotypes. To expand an atlas of genetic associations in non-European populations, we conducted 220 deep-phenotype genome-wide association studies (diseases, biomarkers and medication usage) ...
Genetics researchGenome informaticsGenome-wide association studies
10.1038/S41588-021-00931-X
ISSN:1061-4036
Chromatin accessibility landscapes of skin cells in systemic sclerosis nominate dendritic cells in disease pathogenesis
Qian Liu•Lisa C. Zaba•Ansuman T. Satpathy•Michelle Longmire•Wen Zhang等 17 人
Nature Communications
2020
•2020/11/17
•Vol.11 No.1 p.1-12
Systemic sclerosis (SSc) is a disease at the intersection of autoimmunity and fibrosis. However, the epigenetic regulation and the contributions of diverse cell types to SSc remain unclear. Here we survey, using ATAC-seq, the active DNA regulatory elements of eight types of primary cells in normal s...
AutoimmunityDendritic cellsEpigenomicsRheumatology
10.1038/S41467-020-19702-Z
ISSN:2041-1723
Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk
Ana Jacinta-Fernandes•Joana M. Xavier•Ramiro Magno•Joel G. Lage•Ana-Teresa Maia
Npj Genomic Medicine
2020
•2020/2/13
•Vol.5 No.1 p.1-9
Most breast cancer (BC) risk-associated single-nucleotide polymorphisms (raSNPs) identified in genome-wide association studies (GWAS) are believed to cis-regulate the expression of genes. We hypothesise that cis-regulatory variants contributing to disease risk may be affecting microRNA (miRNA) genes...
Data miningRisk factors
10.1038/S41525-019-0112-9
ISSN:2056-7944
Immunosuppression causes dynamic changes in expression QTLs in psoriatic skin
Qian Xiao•Joseph Mears•Aparna Nathan•Kazuyoshi Ishigaki•Yuriy Baglaenko等 13 人
Nature Communications
2023
•2023/10/7
•Vol.14 No.1 p.1-17
Psoriasis is a chronic, systemic inflammatory condition primarily affecting skin. While the role of the immune compartment (e.g., T cells) is well established, the changes in the skin compartment are more poorly understood. Using longitudinal skin biopsies (n = 375) from the “Psoriasis Treatment wit...
Gene regulationGenetics researchPsoriasis
10.1038/S41467-023-41984-2
ISSN:2041-1723
Genome-wide association analysis and Mendelian randomization proteomics identify drug targets for heart failure
Danielle Rasooly•Gina M. Peloso•Alexandre C. Pereira•Hesam Dashti•Claudia Giambartolomei等 34 人
Nature Communications
2023
•2023/7/10
•Vol.14 No.1 p.1-15
We conduct a large-scale meta-analysis of heart failure genome-wide association studies (GWAS) consisting of over 90,000 heart failure cases and more than 1 million control individuals of European ancestry to uncover novel genetic determinants for heart failure. Using the GWAS results and blood prot...
Cardiovascular geneticsGenome-wide association studiesHeart failureStatistical methods
10.1038/S41467-023-39253-3
ISSN:2041-1723
Psychiatric genome-wide association study enrichment shows promise for future psychopharmaceutical discoveries
Alexander S. Hatoum•Aaron J. Gorelik•Lauren Blaydon•Spencer B. Huggett•Tingying Chi等 10 人
Communications Medicine
2025
•2025/5/16
•Vol.5 No.1 p.1-8
Innovation in psychiatric therapeutics has stagnated on known mechanisms. Psychiatric genome-wide association studies (GWAS) have identified hundreds of genome-wide significant (GWS) loci that have rapidly advanced our understanding of disease etiology. However, whether these results can be leverage...
Genetic association studyPsychiatric disorders
10.1038/S43856-025-00877-9
ISSN:2730-664X
Single-cell eQTL mapping of human endogenous retroviruses reveals cell type-specific genetic regulation in autoimmune diseases
Fan Zhu•Yi Liu•Jiehao Lei•Xinxing Li•Zexu Jiang等 8 人
Nature Communications
2025
•2025/8/14
•Vol.16 No.1 p.1-14
Human endogenous retroviruses constitute a significant portion of the human genome and play complex roles in gene regulation and disease processes. However, the expression pattern and disease associations of specific retroviral loci remain pooly understood. This study examines the expression and reg...
Autoimmune diseasesDisease geneticsRetrovirus
10.1038/S41467-025-62779-7
ISSN:2041-1723
131 genetic loci highlight immunological pathways and tissues in nasal polyposis and asthma
Elmo C. Saarentaus•Kasper Fischer-Rasmussen•Eeva Sliz•Argyro Bizaki-Vallaskangas•Tarja Laitinen等 11 人
Nature Communications
2025
•2025/11/10
•Vol.16 No.1 p.98790
The coexistence of asthma and chronic rhinosinusitis with nasal polyposis (CRSwNP) is associated with allergic phenotypes, disease severity and failure of first-line treatment for both asthma and CRSwNP. Recent studies have highlighted shared genetic components for these diseases. To better understa...
Genome-wide association studiesInflammationRespiratory tract diseases
10.1038/S41467-025-64847-4
ISSN:2041-1723
Human brain proteome-wide association study provides insights into the genetic components of protein abundance in obesity
Qi-Gang Zhao•Zi-Tong Song•Xin-Ling Ma•Qian Xu•Fan Bu等 8 人
International Journal Of Obesity
2024
•2024/7/18
•00 p.1-10
Genome-wide association studies have identified multiple genetic variants associated with obesity. However, most obesity-associated loci were waiting to be translated into new biological insights. Given the critical role of brain in obesity development, we sought to explore whether obesity-associate...
GeneticsObesityProteins
10.1038/S41366-024-01592-6
ISSN:0307-0565
Genetic associations of protein-coding variants in human disease
Sun Benjamin B.•Kurki Mitja I.•Foley Christopher N.•Mechakra Asma•Chen Chia-Yen等 13 人
Nature
2022
•2022/2/23
•00 p.1-8
Genome-wide association studies (GWAS) have identified thousands of genetic variants linked to the risk of human disease. However, GWAS have so far remained largely underpowered in relation to identifying associations in the rare and low-frequency allelic spectrum and have lacked the resolution to t...
DiseasesGenetic association studyGenetic predisposition to diseaseGenetic variation
10.1038/S41586-022-04394-W
ISSN:0028-0836
The trans-ancestral genomic architecture of glycemic traits
Ji Chen•Cassandra N. Spracklen•Gaëlle Marenne•Arushi Varshney•Laura J. Corbin等 405 人
Nature Genetics
2021
•2021/5/31
•Vol.53 No.6 p.840-860
Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes (30...
DiseasesGenetics
10.1038/S41588-021-00852-9
ISSN:1061-4036
A genome-wide association study of occupational creativity and its relations with well-being and career success
Wen-Dong Li•Xin Zhang•Kaili Yu•Yimo Zhu•Nianyao Du等 7 人
Communications Biology
2024
•2024/9/5
•Vol.7 No.1 p.1-12
Creativity is one defining characteristic of human species. There have been mixed findings on how creativity relates to well-being, and little is known about its relationship with career success. We conduct a large-scale genome-wide association study to examine the genetic architecture of occupation...
Behavioural geneticsHuman behaviour
10.1038/S42003-024-06686-5
ISSN:2399-3642
Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes
Monti Remo•Rautenstrauch Pia•Ghanbari Mahsa•James Alva Rani•Kirchler Matthias等 8 人
Nature Communications
2022
•2022/9/10
•Vol.13 No.1 p.1-16
Here we present an exome-wide rare genetic variant association study for 30 blood biomarkers in 191,971 individuals in the UK Biobank. We compare gene-based association tests for separate functional variant categories to increase interpretability and identify 193 significant gene-biomarker associati...
Diagnostic markersGenome-wide association studiesSequence annotation
10.1038/S41467-022-32864-2
ISSN:2041-1723
Genetic predictors of participation in optional components of UK Biobank
Jessica Tyrrell•Jie Zheng•Robin Beaumont•Kathryn Hinton•Tom G. Richardson等 9 人
Nature Communications
2021
•2021/2/9
•Vol.12 No.1 p.1-13
Large studies such as UK Biobank are increasingly used for GWAS and Mendelian randomization (MR) studies. However, selection into and dropout from studies may bias genetic and phenotypic associations. We examine genetic factors affecting participation in four optional components in up to 451,306 UK ...
Data processingGenome-wide association studies
10.1038/S41467-021-21073-Y
ISSN:2041-1723
Genome-wide association study of childhood B-cell acute lymphoblastic leukemia reveals novel African ancestry-specific susceptibility loci
Cindy Im•Andrew R. Raduski•Lauren J. Mills•Kashi Raj Bhattarai•Robert J. Mobley等 43 人
Nature Communications
2025
•2025/10/22
•Vol.16 No.1 p.1-16
B-cell acute lymphoblastic leukemia (B-ALL) is the most common pediatric malignancy. Given racial/ethnic differences in incidence and outcomes, B-ALL genome-wide association studies among children of African ancestry are needed. Leveraging multi-institutional datasets with 840 African American child...
Acute lymphocytic leukaemiaCancer epidemiologyCancer geneticsGenome-wide association studiesPaediatric cancer
10.1038/S41467-025-64337-7
ISSN:2041-1723
Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis
Blair David R.•Hoffmann Thomas J.•Shieh Joseph T.
Nature Communications
2022
•2022/6/27
•Vol.13 No.1 p.1-15
Clinical heterogeneity is common in Mendelian disease, but small sample sizes make it difficult to identify specific contributing factors. However, if a disease represents the severely affected extreme of a spectrum of phenotypic variation, then modifier effects may be apparent within a larger subse...
Disease geneticsMedical genetics
10.1038/S41467-022-31030-Y
ISSN:2041-1723
Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups
Thomas J. Hoffmann•Rebecca E. Graff•Ravi K. Madduri•Alex A. Rodriguez•Clinton L. Cario等 49 人
Nature Genetics
2025
•2025/2/10
•Vol.57 No.2 p.334-344
We conducted a multiancestry genome-wide association study of prostate-specific antigen (PSA) levels in 296,754 men (211,342 European ancestry, 58,236 African ancestry, 23,546 Hispanic/Latino and 3,630 Asian ancestry; 96.5% of participants were from the Million Veteran Program). We identified 318 in...
CancerGenome-wide association studies
10.1038/S41588-024-02068-Z
ISSN:1061-4036
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
Shrine Nick•Izquierdo Abril G.•Chen Jing•Packer Richard•Hall Robert J.等 148 人
Nature Genetics
2023
•2023/3/13
•Vol.55 No.3 p.410-422
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 g...
Genome-wide association studiesRespiratory tract diseases
10.1038/S41588-023-01314-0
ISSN:1061-4036
Single-cell transcriptome-wide Mendelian randomization during CD4+ T cell activation reveals immune-mediated mechanisms and drug targets for neuropsychiatric disorders
Honghan Zhang•Honggang Lyu•Qian Gong•Chao Wang•Qi Wang等 8 人
Communications Biology
2026
•2026/3/29
0Many neuropsychiatric disorders are driven by immunity, but the specific underlying mechanisms and how best to exploit them for therapy remain elusive. Here we combine single-cell transcriptomics of dynamic T cell activation states, identification of expression quantitative trait loci, and Mendelian...
Diseases of the nervous systemImmunotherapy
10.1038/S42003-026-09941-Z
ISSN:2399-3642
ADuLT: An efficient and robust time-to-event GWAS
Emil M. Pedersen•Esben Agerbo•Oleguer Plana-Ripoll•Jette Steinbach•Morten D. Krebs等 16 人
Nature Communications
2023
•2023/9/9
•Vol.14 No.1 p.1-12
Proportional hazards models have been proposed to analyse time-to-event phenotypes in genome-wide association studies (GWAS). However, little is known about the ability of proportional hazards models to identify genetic associations under different generative models and when ascertainment is present...
Genome-wide association studiesStatistics
10.1038/S41467-023-41210-Z
ISSN:2041-1723
Cardiovascular diseases and depression: A meta-analysis and Mendelian randomization analysis
Jun Zeng•Yuting Qiu•Chengying Yang•Xinrong Fan•Xiangyu Zhou等 11 人
Molecular Psychiatry
2025
•2025/4/17
•00 p.1-13
Depression is a common psychiatric symptom among patients with cardiovascular disease (CVD), adversely affecting their health. Despite the identification of various contributing factors, the precise mechanisms linking CVD and depression remain elusive. This study conducted a meta-analysis to investi...
DepressionGenetics
10.1038/S41380-025-03003-2
ISSN:1359-4184
Genome-wide discovery and integrative genomic characterization of insulin resistance loci using serum triglycerides to HDL-cholesterol ratio as a proxy
Natalie DeForest•Yuqi Wang•Zhiyi Zhu•Jacqueline S. Dron•Ryan Koesterer等 10 人
Nature Communications
2024
•2024/9/14
•Vol.15 No.1 p.1-17
Insulin resistance causes multiple epidemic metabolic diseases, including type 2 diabetes, cardiovascular disease, and fatty liver, but is not routinely measured in epidemiological studies. To discover novel insulin resistance genes in the general population, we conducted genome-wide association stu...
Functional genomicsGenetic markersMetabolic syndrome
10.1038/S41467-024-52105-Y
ISSN:2041-1723
Multi-PGS enhances polygenic prediction by combining 937 polygenic scores
Clara Albiñana•Zhihong Zhu•Andrew J. Schork•Andrés Ingason•Hugues Aschard等 19 人
Nature Communications
2023
•2023/8/5
•Vol.14 No.1 p.1-11
The predictive performance of polygenic scores (PGS) is largely dependent on the number of samples available to train the PGS. Increasing the sample size for a specific phenotype is expensive and takes time, but this sample size can be effectively increased by using genetically correlated phenotypes...
Neurodevelopmental disordersPredictive markersStatistical methods
10.1038/S41467-023-40330-W
ISSN:2041-1723
Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort
Qin Youwen•Havulinna Aki S.•Liu Yang•Jousilahti Pekka•Ritchie Scott C.等 21 人
Nature Genetics
2022
•2022/2/3
•Vol.54 No.2 p.134-142
Human genetic variation affects the gut microbiota through a complex combination of environmental and host factors. Here we characterize genetic variations associated with microbial abundances in a single large-scale population-based cohort of 5,959 genotyped individuals with matched gut microbial m...
DiseasesEpidemiologyGenome-wide association studiesMicrobiology
10.1038/S41588-021-00991-Z
ISSN:1061-4036
CoPheScan: phenome-wide association studies accounting for linkage disequilibrium
Ichcha Manipur•Guillermo Reales•Jae Hoon Sul•Myung Kyun Shin•Simonne Longerich等 7 人
Nature Communications
2024
•2024/7/12
•Vol.15 No.1 p.1-13
Phenome-wide association studies (PheWAS) facilitate the discovery of associations between a single genetic variant with multiple phenotypes. For variants which impact a specific protein, this can help identify additional therapeutic indications or on-target side effects of intervening on that prote...
Genetic association studyHigh-throughput screeningStatistical methods
10.1038/S41467-024-49990-8
ISSN:2041-1723
Integrative analyses elucidate transcriptional regulatory functions of risk alleles for metabolic liver disease
Biying Zhu•Na He•Yang Xiao•Bin Chen•Chen Li等 17 人
Nature Genetics
2026
•2026/6/2
•00 p.1-15
Genome-wide association studies have identified >100 loci associated with metabolic dysfunction-associated steatotic liver disease (MASLD), yet the mechanisms by which noncoding variants alter disease risk remain unclear. Here we map chromatin accessibility in human MASLD liver nuclei, revealing ...
Functional genomicsMetabolic disorders
10.1038/S41588-026-02617-8
ISSN:1061-4036
Inflammation status modulates the effect of host genetic variation on intestinal gene expression in inflammatory bowel disease
Shixian Hu•Werna T. Uniken Venema•Harm-Jan Westra•Arnau Vich Vila•Ruggero Barbieri等 14 人
Nature Communications
2021
•2021/2/18
•Vol.12 No.1 p.1-10
More than 240 genetic risk loci have been associated with inflammatory bowel disease (IBD), but little is known about how they contribute to disease development in involved tissue. Here, we hypothesized that host genetic variation affects gene expression in an inflammation-dependent way, and investi...
Data integrationGenetics researchInflammationInflammatory bowel disease
10.1038/S41467-021-21458-Z
ISSN:2041-1723
Quantitative trait loci mapping of circulating metabolites in cerebrospinal fluid to uncover biological mechanisms involved in brain-related phenotypes
Lianne M. Reus•Toni Boltz•Marcelo Francia•Merel Bot•Naren Ramesh等 15 人
Molecular Psychiatry
2025
•2025/2/28
•00 p.1-13
Genomic studies of molecular traits have provided mechanistic insights into complex disease, though these lag behind for brain-related traits due to the inaccessibility of brain tissue. We leveraged cerebrospinal fluid (CSF) to study neurobiological mechanisms in vivo, measuring 5543 CSF metabolites...
GeneticsMolecular biology
10.1038/S41380-025-02934-0
ISSN:1359-4184
Computation and resource efficient genome-wide association analysis for large-scale imaging studies
Zhiwen Jiang•Jason Stein•Tengfei Li•Ethan Fang•Yun Li等 7 人
Nature Communications
2026
•2026/2/28
•Vol.17 No.1 p.33130
Imaging genetics links genetic variations to brain structures and functions, but the computational challenges posed by high-dimensional imaging and genetic data are significant. In voxel-level genome-wide association studies, we introduce a Representation learning-based Voxel-level Genetic Analysis ...
Genome-wide association studiesImage processingLearning algorithms
10.1038/S41467-026-69816-Z
ISSN:2041-1723
The genetic basis for DNA methylation variation across tissues and development
Jonathan Rosenski•Ofra Sabag•Eitan Marcus•Netanel Loyfer•Yuval Dor等 7 人
Nature Communications
2026
•2026/4/15
0The mechanisms by which genetic variation shapes the epigenome across cell types and developmental stages have remained elusive. Here, we define a unifying developmental framework for DNA methylation programming, grounded in genome-wide methylation and genetic variation data from both mouse and huma...
EpigeneticsGenome-wide association studiesMethylation analysis
10.1038/S41467-026-71693-5
ISSN:2041-1723
Blood metabolic biomarkers and colorectal cancer risk: results from large prospective cohort and Mendelian randomisation analyses
Fangcheng Yuan•Guochong Jia•Wanqing Wen•Shuai Xu•Valerie Gunchick等 10 人
British Journal Of Cancer
2025
•2025/4/30
•00 p.1-10
Emerging evidence suggests metabolic dysregulation may contribute to colorectal cancer (CRC) aetiology. We aimed to identify pre-diagnostic metabolic biomarkers for CRC risk in 230,420 UK Biobank participants. Nuclear magnetic resonance spectroscopy was used to quantify 249 metabolic biomarkers in p...
Cancer epidemiologyEpidemiologyRisk factors
10.1038/S41416-025-02997-4
ISSN:0007-0920
Comprehensive benchmarking single and multi ancestry polygenic score methods with the PGS-hub platform
Xingyu Chen•Fei Wang•Hongqiang Zhao•Jing Hao•Yunga A等 15 人
Nature Communications
2026
•2026/1/25
•Vol.17 No.1 p.20140
Polygenic scores (PGS) quantify genetic contributions to complex traits, yet existing single- and multi-ancestry methods lack multi-dimensional evaluation within a unified framework. Here, we benchmarked 13 state-of-the-art PGS methods across 36 traits in UK Biobank European and African samples. The...
DiseasesEpidemiologyMedical geneticsPopulation geneticsStatistical methods
10.1038/S41467-026-68599-7
ISSN:2041-1723
Genome-wide association study identifies common variants associated with breast cancer in South African Black women
Mahtaab Hayat•Wenlong C. Chen•Chantal Babb de Villiers•Sang Hyuck Lee•Charles Curtis等 15 人
Nature Communications
2025
•2025/4/14
•Vol.16 No.1 p.1-11
Genome-wide association studies (GWAS) have characterized the contribution of common variants to breast cancer (BC) risk in populations of European ancestry, however GWAS have not been reported in resident African populations. This GWAS included 2485 resident African BC cases and 1101 population mat...
Cancer genomicsComputational biology and bioinformatics
10.1038/S41467-025-58789-0
ISSN:2041-1723
Robustness and lethality in multilayer biological molecular networks
Xueming Liu•Enrico Maiorino•Arda Halu•Kimberly Glass•Rashmi B. Prasad等 8 人
Nature Communications
2020
•2020/11/27
•Vol.11 No.1 p.1-12
Robustness is a prominent feature of most biological systems. Most previous related studies have been focused on homogeneous molecular networks. Here we propose a comprehensive framework for understanding how the interactions between genes, proteins and metabolites contribute to the determinants of ...
Complex networksDynamic networksPhase transitions and critical phenomenaRegulatory networksRobustness
10.1038/S41467-020-19841-3
ISSN:2041-1723
Hi-Compass: a depth-aware deep learning framework for predicting cell-type-specific 3D genome organization from single-cell to spatial resolution
Yuan-Chen Sun•Wen-Jie Jiang•Kang-Wen Cai•Na-Na Wei•Fu-Ting Lai等 14 人
Nature Communications
2026
•2026/4/14
0Three-dimensional genome organization controls cell-type-specific gene expression through chromatin interactions, yet systematic analysis across diverse cellular contexts remains limited by experimental constraints. Here we present Hi-Compass, a depth-aware deep learning framework that predicts cell...
Chromatin analysisChromatin remodellingComputational modelsEpigenomicsMachine learning
10.1038/S41467-026-71877-Z
ISSN:2041-1723
A genome-wide association analysis reveals new pathogenic pathways in gout
Tanya J. Major•Riku Takei•Hirotaka Matsuo•Megan P. Leask•Nicholas A. Sumpter等 98 人
Nature Genetics
2024
•2024/10/15
•00 p.1-15
Gout is a chronic disease that is caused by an innate immune response to deposited monosodium urate crystals in the setting of hyperuricemia. Here, we provide insights into the molecular mechanism of the poorly understood inflammatory component of gout from a genome-wide association study (GWAS) of ...
Genetics researchGout
10.1038/S41588-024-01921-5
ISSN:1061-4036
Vascular smooth muscle cell state trajectories mediate molecular mechanisms of coronary disease risk
Daniel Y. Li•Soumya Kundu•Paul Cheng•Wenduo Gu•Matthew D. Worssam等 19 人
Nature Communications
2026
•2026/3/17
0Vascular smooth muscle cells contribute to heritable coronary artery disease risk and undergo complex transitions to multiple disease-related phenotypes. To investigate the genetic basis of these trajectories, we develop a dense timecourse single-cell transcriptomic and epigenetic map of atheroscler...
Cardiovascular geneticsEpigenomicsGene expression profilingGene regulatory networksMechanisms of disease
10.1038/S41467-026-70530-Z
ISSN:2041-1723
New insights into the genetic etiology of Alzheimer’s disease and related dementias
Bellenguez Céline•Küçükali Fahri•Jansen Iris E.•Kleineidam Luca•Moreno-Grau Sonia等 403 人
Nature Genetics
2022
•2022/4/4
•00 p.1-25
Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘pro...
Alzheimer's diseaseGenome-wide association studies
10.1038/S41588-022-01024-Z
ISSN:1061-4036
Large-scale integration of the plasma proteome with genetics and disease
Ferkingstad Egil•Sulem Patrick•Atlason Bjarni A.•Sveinbjornsson Gardar•Magnusson Magnus I.等 40 人
Nature Genetics
2021
•2021/12/2
•00 p.1-10
The plasma proteome can help bridge the gap between the genome and diseases. Here we describe genome-wide association studies (GWASs) of plasma protein levels measured with 4,907 aptamers in 35,559 Icelanders. We found 18,084 associations between sequence variants and levels of proteins in plasma (p...
Genetics researchGenome-wide association studiesProteome informatics
10.1038/S41588-021-00978-W
ISSN:1061-4036
Longitudinal characterization of impulsivity phenotypes boosts signal for genomic correlates and heritability
Wei Q. Deng•Kyla Belisario•Marcus R. Munafò•James MacKillop
Molecular Psychiatry
2024
•2024/8/24
•00 p.1-11
Genomic correlates of impulsivity have been identified in several genome-wide association studies (GWAS) using cross-sectional designs, but no studies have investigated the molecular genetic correlates of impulsivity phenotypes using longitudinally constructed traits. In 3860 unrelated European part...
GeneticsPredictive markersPsychology
10.1038/S41380-024-02704-4
ISSN:1359-4184
Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function
Aung Nay•Vargas Jose D.•Yang Chaojie•Fung Kenneth•Sanghvi Mihir M.等 15 人
Nature Genetics
2022
•2022/6/13
•Vol.54 No.6 p.783-791
Right ventricular (RV) structure and function influence the morbidity and mortality from coronary artery disease (CAD), dilated cardiomyopathy (DCM), pulmonary hypertension and heart failure. Little is known about the genetic basis of RV measurements. Here we perform genome-wide association analyses...
Genetic association studyGenome-wide association studies
10.1038/S41588-022-01083-2
ISSN:1061-4036
Genomic landscape of the human vaginal microbiome is linked to host genetics and population of origin
Zhuye Jie•Weiting Liang•Qiuxia Ding•Xiaomin Liu•Yunhong Zhang等 33 人
Nature Genetics
2026
•2026/6/11
•00 p.1-15
The vaginal microbiome is essential for women’s health, yet its genomic diversity and interaction with the host remain incompletely characterized. Here we present the Global Vaginal Metagenome-assembled Genomes catalog, an extensive repository of vaginal microbial genomes generated by integrating 10...
Microbial geneticsMicrobiology
10.1038/S41588-026-02639-2
ISSN:1061-4036
A cross-platform approach identifies genetic regulators of human metabolism and health
Luca A. Lotta•Maik Pietzner•Isobel D. Stewart•Laura B. L. Wittemans•Chen Li等 23 人
Nature Genetics
2021
•2021/1/7
•Vol.53 No.1 p.54-64
In cross-platform analyses of 174 metabolites, we identify 499 associations (P < 4.9 × 10−10) characterized by pleiotropy, allelic heterogeneity, large and nonlinear effects and enrichment for nonsynonymous variation. We identify a signal at GLP2R (p.Asp470Asn) shared among higher citrulline levels,...
Genetic association studyTranslational research
10.1038/S41588-020-00751-5
ISSN:1061-4036
A scalable variational inference approach for increased mixed-model association power
Hrushikesh Loya•Georgios Kalantzis•Fergus Cooper•Pier Francesco Palamara
Nature Genetics
2025
•2025/1/9
•00 p.1-8
The rapid growth of modern biobanks is creating new opportunities for large-scale genome-wide association studies (GWASs) and the analysis of complex traits. However, performing GWASs on millions of samples often leads to trade-offs between computational efficiency and statistical power, reducing th...
Genome-wide association studiesSoftware
10.1038/S41588-024-02044-7
ISSN:1061-4036
Large-scale plasma proteomic analysis identifies proteins and pathways associated with dementia risk
Keenan A. Walker•Jingsha Chen•Jingning Zhang•Myriam Fornage•Yunju Yang等 25 人
Nature Aging
2021
•2021/5/14
•Vol.1 No.5 p.473-489
The plasma proteomic changes that precede the onset of dementia could yield insights into disease biology and highlight new biomarkers and avenues for intervention. We quantified 4,877 plasma proteins in nondemented older adults in the Atherosclerosis Risk in Communities cohort and performed a prote...
AgeingAlzheimer's diseaseBiomarkersDementiaProteomics
10.1038/S43587-021-00064-0
ISSN:2662-8465
The HUNT study identifies host genetic factors reproducibly associated with human gut microbiota composition
Marta Riise Moksnes•Eivind Coward•Maria Nethander•Koen Dekkers•Louise Grahnemo等 27 人
Nature Genetics
2026
•2026/2/13
•Vol.58 No.3 p.530-539
The gut microbiota is associated with human health and disease. Here we conducted a genome-wide association study of host genetic factors influencing gut microbiota composition in 12,652 individuals from the Trøndelag Health Study (HUNT), with replication in Nordic cohorts (n = 16,017–21,976). We id...
BacteriologyEpidemiologyGenome-wide association studies
10.1038/S41588-026-02502-4
ISSN:1061-4036
Proteogenomics in cerebrospinal fluid and plasma reveals new biological fingerprint of cerebral small vessel disease
Ilana Caro•Daniel Western•Shinichi Namba•Na Sun•Shuji Kawaguchi等 57 人
Nature Aging
2025
•2025/11/20
•00 p.1-18
Cerebral small vessel disease (cSVD) is a leading cause of stroke and dementia with no specific treatment, of which molecular mechanisms remain poorly understood. To identify potential biomarkers and therapeutic targets, we applied Mendelian randomization to examine over 2,500 proteins measured in p...
Cerebrovascular disordersNeurovascular disorders
10.1038/S43587-025-01006-W
ISSN:2662-8465
Genome-wide association meta-analysis identifies 29 new acne susceptibility loci
Mitchell Brittany L.•Saklatvala Jake R.•Dand Nick•Hagenbeek Fiona A.•Li Xin等 20 人
Nature Communications
2022
•2022/2/7
•Vol.13 No.1 p.1-9
Acne vulgaris is a highly heritable skin disorder that primarily impacts facial skin. Severely inflamed lesions may leave permanent scars that have been associated with long-term psychosocial consequences. Here, we perform a GWAS meta-analysis comprising 20,165 individuals with acne from nine indepe...
Acne vulgarisGenetics researchGenome-wide association studies
10.1038/S41467-022-28252-5
ISSN:2041-1723
Identification of circulating proteins associated with general cognitive function among middle-aged and older adults
Adrienne Tin•Alison E. Fohner•Qiong Yang•Jennifer A. Brody•Gail Davies等 57 人
Communications Biology
2023
•2023/11/3
•Vol.6 No.1 p.1-14
Identifying circulating proteins associated with cognitive function may point to biomarkers and molecular process of cognitive impairment. Few studies have investigated the association between circulating proteins and cognitive function. We identify 246 protein measures quantified by the SomaScan as...
Alzheimer's diseasePrognostic markers
10.1038/S42003-023-05454-1
ISSN:2399-3642
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects
Krohn Lynne•Heilbron Karl•Blauwendraat Cornelis•Reynolds Regina H.•Yu Eric等 58 人
Nature Communications
2022
•2022/12/5
•Vol.13 No.1 p.1-16
Rapid-eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom of alpha-synucleinopathies and defines a more severe subtype. The genetic background of RBD and its underlying mechanisms are not well understood. Here, we perform a genome-wide...
Genome-wide association studiesGenomicsRisk factors
10.1038/S41467-022-34732-5
ISSN:2041-1723
Selecting likely causal risk factors from high-throughput experiments using multivariable Mendelian randomization
Verena Zuber•Johanna Maria Colijn•Caroline Klaver•Stephen Burgess
Nature Communications
2020
•2020/1/7
•Vol.11 No.1 p.1-11
Modern high-throughput experiments provide a rich resource to investigate causal determinants of disease risk. Mendelian randomization (MR) is the use of genetic variants as instrumental variables to infer the causal effect of a specific risk factor on an outcome. Multivariable MR is an extension of...
BiomarkersEpidemiologyGenome-wide association studiesStatistical methods
10.1038/S41467-019-13870-3
ISSN:2041-1723
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
Marc Jan Bonder•Craig Smail•Michael J. Gloudemans•Laure Frésard•David Jakubosky等 17 人
Nature Genetics
2021
•2021/3/4
•Vol.53 No.3 p.313-321
Induced pluripotent stem cells (iPSCs) are an established cellular system to study the impact of genetic variants in derived cell types and developmental contexts. However, in their pluripotent state, the disease impact of genetic variants is less well known. Here, we integrate data from 1,367 human...
Gene expression profilingGene regulationStem cells
10.1038/S41588-021-00800-7
ISSN:1061-4036
Genetic architecture of plasma metabolome in 254,825 individuals
Yi-Xuan Qiang•Yi-Xuan Wang•Xiao-Yu He•Yue-Ting Deng•Yi-Jun Ge等 10 人
Nature Communications
2025
•2025/9/19
•Vol.16 No.1 p.1-17
Circulating metabolites are crucial to biological processes underlying health and diseases, yet their genetic determinants remain incompletely understood. Here, we investigate the genetic architecture of nuclear magnetic resonance-based metabolomics, analyzing 249 metabolic measures and 64 biologica...
Genome-wide association studiesMetabolomics
10.1038/S41467-025-62126-W
ISSN:2041-1723
Linking the plasma proteome to genetics in individuals from continental Africa provides insights into type 2 diabetes pathogenesis
Opeyemi Soremekun•Young-Chan Park•Mauro Tutino•Ana Luiza Arruda•Allan Kalungi等 9 人
Nature Genetics
2026
•2026/1/8
•Vol.58 No.1 p.39-46
Individuals of African ancestry remain largely underrepresented in genetic and proteomic studies. Here we measure the levels of 2,873 proteins in plasma samples from 163 individuals with type 2 diabetes (T2D) or prediabetes and 362 normoglycemic controls from the Ugandan population. We identify 88 d...
DiseasesMetabolic disorders
10.1038/S41588-025-02421-W
ISSN:1061-4036
Prostate cancer genetic risk and associated aggressive disease in men of African ancestry
Pamela X. Y. Soh•Naledi Mmekwa•Desiree C. Petersen•Kazzem Gheybi•Smit van Zyl等 12 人
Nature Communications
2023
•2023/12/5
•Vol.14 No.1 p.1-14
African ancestry is a significant risk factor for prostate cancer and advanced disease. Yet, genetic studies have largely been conducted outside the context of Sub-Saharan Africa, identifying 278 common risk variants contributing to a multiethnic polygenic risk score, with rare variants focused on a...
Cancer geneticsGenetics researchProstateProstate cancer
10.1038/S41467-023-43726-W
ISSN:2041-1723
Imaging and genome-supported association of glymphatic system function and multiregional brain characteristics with Parkinson’s disease
Zhinan Ye•Yuchen Lin•Yangguang Lu•Zihao Wu•Baoyi Zhu等 14 人
Npj Parkinson's Disease
2026
•2026/3/12
0This study investigated the genetic and phenotypic associations of the glymphatic system and brain characteristics with Parkinson’s disease (PD) and developed an imaging-derived early prediction model. In a case-control analysis of 118 PD patients and 58 matched controls, a lower analysis along the ...
DiseasesNeurologyNeuroscience
10.1038/S41531-026-01314-X
ISSN:2373-8057
The link between liver fat and cardiometabolic diseases is highlighted by genome-wide association study of MRI-derived measures of body composition
van der Meer Dennis•Gurholt Tiril P.•Sønderby Ida E.•Shadrin Alexey A.•Hindley Guy等 18 人
Communications Biology
2022
•2022/11/19
•Vol.5 No.1 p.1-10
Obesity and associated morbidities, metabolic associated fatty liver disease (MAFLD) included, constitute some of the largest public health threats worldwide. Body composition and related risk factors are known to be heritable and identification of their genetic determinants may aid in the developme...
Genome-wide association studiesRisk factors
10.1038/S42003-022-04237-4
ISSN:2399-3642
NTPDase2 suppresses hippocampal astrocyte-supplied cholesterol through hydrolyzing eATP in depression
Na Zuo•Si-Si Liu•Shu-Man Pan•Xuan-Ping Ou-Yang•Jia-Shu Yao等 9 人
Molecular Psychiatry
2026
•2026/6/15
•00 p.1-14
Depression is associated with cholesterol metabolism dysregulation, but the exact correlation and underlying mechanism remain unclear. Here, our finding reveals a notable reduction in cholesterol, specifically in apolipoprotein E lipoprotein (ApoE-Lps)-carried cholesterol, in cerebrospinal fluid (CS...
Molecular biologyNeuroscience
10.1038/S41380-026-03682-5
ISSN:1359-4184
An observational and genetic investigation into the association between psoriasis and risk of malignancy
Ruolin Li•Wenjin Luo•Xiangjun Chen•Qinglian Zeng•Shumin Yang等 8 人
Nature Communications
2024
•2024/9/11
•Vol.15 No.1 p.1-11
The relationship between psoriasis and site-specific cancers remains unclear. Here, we aim to investigate whether psoriasis is causally associated with site-specific cancers. We use observational and genetic data from the UK Biobank, obtaining GWAS summary data, eQTL analysis data, TCGA data, and GT...
Cancer geneticsGenetic association studyPsoriasis
10.1038/S41467-024-51824-6
ISSN:2041-1723
Genetic Insights into Head-to-Body Ratios Via Deep Learning-Based Image Segmentation and Implications for Common Diseases
Wei Shi•Shan-Shan Dong•Ren-Jie Zhu•Shi-Hao Tang•Jia-Hao Wang等 15 人
Nature Communications
2025
•2025/12/24
0Head-to-body ratios (HBRs) are important anthropometric traits with direct relevance to human growth, development, and disease risk. However, the role of the proportions between head and body remains understudied, with the genetic basis of HBRs remaining largely unexplored. By applying deep learning...
AnthropologyGenome-wide association studiesQuantitative trait
10.1038/S41467-025-67578-8
ISSN:2041-1723
Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses
Natàlia Pujol Gualdo•Jelisaveta Džigurski•Valentina Rukins•Fanny-Dhelia Pajuste•Brooke N. Wolford等 15 人
Nature Medicine
2025
•2025/3/11
•00 p.1-9
The genetic background of many female reproductive health diagnoses remains uncharacterized, compromising our understanding of the underlying biology. Here, we map the genetic architecture across 42 female-specific health conditions using data from up to 293,618 women from two large population-based...
Genetics researchUrogenital reproductive disorders
10.1038/S41591-025-03543-8
ISSN:1078-8956
Clinical implications of bone marrow adiposity identified by phenome-wide association and Mendelian randomization in the UK Biobank
Wei Xu•Ines Mesa-Eguiagaray•David M. Morris•Chengjia Wang•Calum D. Gray等 17 人
Nature Communications
2025
•2025/9/23
•Vol.16 No.1 p.1-22
Bone marrow adiposity changes in diverse diseases, but the full scope of these, and whether they are directly influenced by marrow adiposity, remains unknown. To address this, we previously measured the bone marrow fat fraction of the femoral head, total hip, femoral diaphysis, and spine of over 48,...
BoneGenome-wide association studiesPopulation genetics
10.1038/S41467-025-63395-1
ISSN:2041-1723
Accelerating functional gene discovery in osteoarthritis
Natalie C. Butterfield•Katherine F. Curry•Julia Steinberg•Hannah Dewhurst•Davide Komla-Ebri等 27 人
Nature Communications
2021
•2021/1/20
•Vol.12 No.1 p.1-18
Osteoarthritis causes debilitating pain and disability, resulting in a considerable socioeconomic burden, yet no drugs are available that prevent disease onset or progression. Here, we develop, validate and use rapid-throughput imaging techniques to identify abnormal joint phenotypes in randomly sel...
BoneCartilage
10.1038/S41467-020-20761-5
ISSN:2041-1723
Investigating the shared genetic architecture between schizophrenia and sex hormone traits
Xiaoyan He•Qingyan Ma•Jing Liu•Pu Lei•Huan Peng等 11 人
Translational Psychiatry
2025
•2025/3/17
•Vol.15 No.1 p.1-8
Sex hormones are involved in schizophrenia pathogenesis; however, their direction and genetic overlap remain unknown. By leveraging summary statistics from large-scale genome-wide association studies, we quantified the shared genetic architecture between schizophrenia and four sex hormone traits. Li...
Comparative genomicsSchizophrenia
10.1038/S41398-025-03305-7
ISSN:2158-3188
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
Aragam Krishna G.•Jiang Tao•Goel Anuj•Kanoni Stavroula•Wolford Brooke N.等 95 人
Nature Genetics
2022
•2022/12/6
•Vol.54 No.12 p.1803-1815
The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) comprising 181,522 cases among 1,165,690 participants of predominantly Europea...
Acute coronary syndromesGenome-wide association studies
10.1038/S41588-022-01233-6
ISSN:1061-4036
Genome-wide association study identifies protective genetic factors in active blood donors against multiple diseases
Jonna Clancy•Jarkko Toivonen•Jouni Lauronen•Jukka Partanen•Mikko Arvas等 6 人
European Journal Of Human Genetics
2026
•2026/4/27
•00 p.1-13
The healthy donor effect (HDE) refers to the lower mortality observed among blood donors compared to the general population. While HDE arises due to healthier individuals being more likely to donate, the extent to which it is influenced by genetic differences remains unclear. To elucidate the geneti...
Genetics researchGenomics
10.1038/S41431-026-02100-2
ISSN:1018-4813
Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import
Artem Khan•Gokhan Unlu•Phillip Lin•Yuyang Liu•Ece Kilic等 8 人
Nature Genetics
2024
•2024/7/8
•Vol.56 No.8 p.1614-1623
Organisms maintain metabolic homeostasis through the combined functions of small-molecule transporters and enzymes. While many metabolic components have been well established, a substantial number remains without identified physiological substrates. To bridge this gap, we have leveraged large-scale ...
Functional genomicsGenetics researchSystems analysis
10.1038/S41588-024-01827-2
ISSN:1061-4036
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms
Ward Lucas D.•Tu Ho-Chou•Quenneville Chelsea B.•Tsour Shira•Flynn-Carroll Alexander O.等 14 人
Nature Communications
2021
•2021/7/27
•Vol.12 No.1 p.1-14
Understanding mechanisms of hepatocellular damage may lead to new treatments for liver disease, and genome-wide association studies (GWAS) of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) serum activities have proven useful for investigating liver biology. Here we report 100 lo...
Bile duct cancerGenome-wide association studiesHepatocytesLiver diseases
10.1038/S41467-021-24563-1
ISSN:2041-1723
Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification
Maryam Kavousi•Maxime M. Bos•Hanna J. Barnes•Christian L. Lino Cardenas•Doris Wong等 89 人
Nature Genetics
2023
•2023/9/28
•00 p.1-14
Coronary artery calcification (CAC), a measure of subclinical atherosclerosis, predicts future symptomatic coronary artery disease (CAD). Identifying genetic risk factors for CAC may point to new therapeutic avenues for prevention. Currently, there are only four known risk loci for CAC identified fr...
CalcificationGenome-wide association studies
10.1038/S41588-023-01518-4
ISSN:1061-4036
Genetic architecture reconciles linkage and association studies of complex traits
Julia Sidorenko•Baptiste Couvy-Duchesne•Kathryn E. Kemper•Gunn-Helen Moen•Laxmi Bhatta等 27 人
Nature Genetics
2024
•2024/10/7
•00 p.1-9
Linkage studies have successfully mapped loci underlying monogenic disorders, but mostly failed when applied to common diseases. Conversely, genome-wide association studies (GWASs) have identified replicable associations between thousands of SNPs and complex traits, yet capture less than half of the...
Genetic linkage studyGenome-wide association studies
10.1038/S41588-024-01940-2
ISSN:1061-4036
Hepatic immune regulation and sex disparities
Patrizia Burra•Alberto Zanetto•Bernd Schnabl•Thomas Reiberger•Aldo J. Montano-Loza等 8 人
Nature Reviews Gastroenterology & Hepatology
2024
•2024/9/5
•00 p.1-16
Chronic liver disease is a major cause of morbidity and mortality worldwide. Epidemiology, clinical phenotype and response to therapies for gastrointestinal and liver diseases are commonly different between women and men due to sex-specific hormonal, genetic and immune-related factors. The hepatic i...
LiverLiver diseases
10.1038/S41575-024-00974-5
ISSN:1759-5045
Fine-scale population structure and widespread conservation of genetic effect sizes between human groups across traits
Sile Hu•Lino A. F. Ferreira•Sinan Shi•Garrett Hellenthal•Jonathan Marchini等 7 人
Nature Genetics
2025
•2025/2/3
•Vol.57 No.2 p.379-389
Understanding genetic differences between populations is essential for avoiding confounding in genome-wide association studies and improving polygenic score (PGS) portability. We developed a statistical pipeline to infer fine-scale Ancestry Components and applied it to UK Biobank data. Ancestry Comp...
Genome-wide association studiesMedical geneticsPopulation geneticsSoftware
10.1038/S41588-024-02035-8
ISSN:1061-4036
No evidence for genetic role of the tumor necrosis factor pathway in Parkinson’s disease
Morvarid Ghamgosar Shahkhali•Lang Liu•Emma N. Somerville•Alastair J. Noyce•Ziv Gan-Or等 6 人
Npj Parkinson's Disease
2025
•2025/12/9
•Vol.11 No.1 p.3520
Tumor necrosis factor (TNF) inhibition is under investigation as a therapeutic strategy for Parkinson’s disease (PD) and REM sleep behavior disorder (RBD), yet supporting genetic evidence is limited. We used Summary-data-based Mendelian Randomization (SMR) to test whether expression level of ten TNF...
CancerDiseasesGeneticsNeurologyNeuroscience
10.1038/S41531-025-01197-4
ISSN:2373-8057
Genome-wide meta-analyses of cross substance use disorders in diverse populations
Dongbing Lai•Michael Zhang•Nick Green•Marco Abreu•Tae-Hwi Schwantes-An等 13 人
Molecular Psychiatry
2025
•2025/10/7
•00 p.1-15
Substance use disorders (SUDs, including alcohol, cannabis, opioids, and tobacco) represent significant public health challenges. The estimated heritability of SUDs is ~50% and many individuals experience multiple SUDs concurrently. Studies have demonstrated the existence of genes shared across mult...
AddictionGenetics
10.1038/S41380-025-03294-5
ISSN:1359-4184
Genome-wide association study of REM sleep behavior disorder in Parkinson’s disease
Yuri L. Sosero•Karl Heilbron•Pierre Fontanillas•Lucy Norcliffe-Kaufmann•Eric Yu等 31 人
Npj Parkinson's Disease
2025
•2025/9/25
•Vol.11 No.1 p.1-9
REM sleep behavior disorder (RBD), is a prodromal synucleinopathy affecting a subset of Parkinson’s disease (PD) patients and associated with neuropsychiatric symptoms. This study compared the genetic profiles of 13,020 PD patients with probable RBD (PD + RBD) and 5403 without (PD-RBD) using genome-...
DiseasesGeneticsNeurologyNeuroscience
10.1038/S41531-025-01078-W
ISSN:2373-8057
Multi-omic quantitative trait loci link tandem repeat size variation to gene regulation in human brain
Ya Cui•Frederick J. Arnold•Jason Sheng Li•Jie Wu•Dan Wang等 13 人
Nature Genetics
2025
•2025/1/14
•00 p.1-10
Tandem repeat (TR) size variation is implicated in ~50 neurological disorders, yet its impact on gene regulation in the human brain remains largely unknown. In the present study, we quantified the impact of TR size variation on brain gene regulation across distinct molecular phenotypes, based on 4,4...
Data miningTranscriptomics
10.1038/S41588-024-02057-2
ISSN:1061-4036
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders
Eijsbouts Chris•Zheng Tenghao•Kennedy Nicholas A.•Bonfiglio Ferdinando•Anderson Carl A.等 29 人
Nature Genetics
2021
•2021/11/5
•Vol.53 No.11 p.1543-1552
Irritable bowel syndrome (IBS) results from disordered brain–gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for UK Biobank and combined identified cases with IBS with independent cohorts. W...
Genome-wide association studiesIrritable bowel syndromePsychiatric disorders
10.1038/S41588-021-00950-8
ISSN:1061-4036
Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases
Chen Yiheng•Lu Tianyuan•Pettersson-Kymmer Ulrika•Stewart Isobel D.•Butler-Laporte Guillaume等 19 人
Nature Genetics
2023
•2023/1/12
•Vol.55 No.1 p.44-53
Metabolic processes can influence disease risk and provide therapeutic targets. By conducting genome-wide association studies of 1,091 blood metabolites and 309 metabolite ratios, we identified associations with 690 metabolites at 248 loci and associations with 143 metabolite ratios at 69 loci. Inte...
Autoimmune diseasesEndocrine system and metabolic diseasesGenome-wide association studiesMetabolomicsOsteoporosis
10.1038/S41588-022-01270-1
ISSN:1061-4036
The GWAS Diversity Monitor tracks diversity by disease in real time
Melinda C. Mills•Charles Rahal
Nature Genetics
2020
•2020/3/5
•Vol.52 No.3 p.242-243
Genetics researchGenome-wide association studiesPopulation genetics
10.1038/S41588-020-0580-Y
ISSN:1061-4036
A sex-stratified analysis of the genetic architecture of human brain anatomy
Rebecca Shafee•Dustin Moraczewski•Siyuan Liu•Travis Mallard•Adam Thomas等 6 人
Nature Communications
2024
•2024/9/13
•Vol.15 No.1 p.1-11
Large biobanks have dramatically advanced our understanding of genetic influences on human brain anatomy. However, most studies have combined rather than compared male and female participants. Here we screen for sex differences in the common genetic architecture of over 1000 neuroanatomical phenotyp...
Genetics of the nervous systemGenome-wide association studiesQuantitative trait
10.1038/S41467-024-52244-2
ISSN:2041-1723
Human genetic variation determines 24-hour rhythmic gene expression and disease risk
Ying Chen•Panpan Liu•Aniko Sabo•Dongyin Guan
Nature Communications
2025
•2025/5/8
•Vol.16 No.1 p.1-14
24-hour biological rhythms are essential to maintain physiological homeostasis. Disruption of these rhythms increases the risks of multiple diseases. Biological rhythms are known to have a genetic basis formed by core clock genes, but how individual genetic variation shapes the oscillating transcrip...
Genome-wide association studiesMetabolic diseasesQuantitative trait
10.1038/S41467-025-59524-5
ISSN:2041-1723
Genome-wide association study identifies human genetic variants associated with fatal outcome from Lassa fever
Dylan Kotliar•Siddharth Raju•Shervin Tabrizi•Ikponmwosa Odia•Augustine Goba等 65 人
Nature Microbiology
2024
•2024/2/7
•00 p.1-12
Infection with Lassa virus (LASV) can cause Lassa fever, a haemorrhagic illness with an estimated fatality rate of 29.7%, but causes no or mild symptoms in many individuals. Here, to investigate whether human genetic variation underlies the heterogeneity of LASV infection, we carried out genome-wide...
Genome-wide association studiesMedical genomicsVirus–host interactions
10.1038/S41564-023-01589-3
ISSN:2058-5276
Genetic and phenotypic architecture of human myocardial trabeculation
Kathryn A. McGurk•Mengyun Qiao•Sean L. Zheng•Arunashis Sau•Albert Henry等 12 人
Nature Cardiovascular Research
2024
•2024/11/20
•00 p.1-13
Cardiac trabeculae form a network of muscular strands that line the inner surfaces of the heart. Their development depends on multiscale morphogenetic processes and, while highly conserved across vertebrate evolution, their role in the pathophysiology of the mature heart is not fully understood. Her...
Cardiovascular geneticsHeart development
10.1038/S44161-024-00564-3
ISSN:2731-0590
Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth
Robin N. Beaumont•Christopher Flatley•Marc Vaudel•Xiaoping Wu•Jing Chen等 88 人
Nature Genetics
2023
•2023/10/5
•00 p.1-13
A well-functioning placenta is essential for fetal and maternal health throughout pregnancy. Using placental weight as a proxy for placental growth, we report genome-wide association analyses in the fetal (n = 65,405), maternal (n = 61,228) and paternal (n = 52,392) genomes, yielding 40 independent ...
Genetic association studyGenetics research
10.1038/S41588-023-01520-W
ISSN:1061-4036
A cross-population compendium of gene–environment interactions
Shinichi Namba•Kyuto Sonehara•Yuriko N. Koyanagi•Takezo Kikuchi•Takafumi Ojima等 38 人
Nature
2026
•2026/1/28
•Vol.651 No.8106 p.688-697
Environmental differences in genetic effect sizes, namely, gene–environment interactions, may uncover the genetic encoding of phenotypic plasticity1–3. We provide a cross-population atlas of gene–environment interactions comprising 440,210 individuals from European and Japanese populations, with rep...
EpidemiologyGenetics researchGenome-wide association studiesRisk factors
10.1038/S41586-025-10054-6
ISSN:0028-0836
Genetic architectures of cerebral ventricles and their overlap with neuropsychiatric traits
Yi-Jun Ge•Bang-Sheng Wu•Yi Zhang•Shi-Dong Chen•Ya-Ru Zhang等 43 人
Nature Human Behaviour
2023
•2023/10/19
•00 p.1-17
The cerebral ventricles are recognized as windows into brain development and disease, yet their genetic architectures, underlying neural mechanisms and utility in maintaining brain health remain elusive. Here we aggregated genetic and neuroimaging data from 61,974 participants (age range, 9 to 98 ye...
Alzheimer's diseaseGenetics of the nervous systemGenetics researchGenome-wide association studies
10.1038/S41562-023-01722-6
ISSN:2397-3374
Multi-trait and multi-ancestry genetic analysis of comorbid lung diseases and traits improves genetic discovery and polygenic risk prediction
Yixuan He•Wenhan Lu•Yon Ho Jee•Mu-Yi Shih•Ying Wang等 18 人
Nature Genetics
2026
•2026/1/21
•Vol.58 No.2 p.289-298
While respiratory diseases such as chronic obstructive pulmonary disease (COPD) and asthma share many risk factors, most studies investigate them in isolation and in predominantly European-ancestry populations. Here, we conducted the most powerful multi-trait and multi-ancestry genetic analysis of r...
Disease preventionGenetics researchGenome-wide association studiesMedical geneticsRespiratory tract diseases
10.1038/S41588-025-02470-1
ISSN:1061-4036
Neonatal genetics of gene expression reveal potential origins of autoimmune and allergic disease risk
Qin Qin Huang•Howard H. F. Tang•Shu Mei Teo•Danny Mok•Scott C. Ritchie等 15 人
Nature Communications
2020
•2020/7/28
•Vol.11 No.1 p.1-12
Chronic immune-mediated diseases of adulthood often originate in early childhood. To investigate genetic associations between neonatal immunity and disease, we map expression quantitative trait loci (eQTLs) in resting myeloid cells and CD4+ T cells from cord blood samples, as well as in response to ...
Gene expressionTranscriptomics
10.1038/S41467-020-17477-X
ISSN:2041-1723
Serum proteomics reveal APOE-ε4-dependent and APOE-ε4-independent protein signatures in Alzheimer’s disease
Elisabet A. Frick•Valur Emilsson•Thorarinn Jonmundsson•Anna E. Steindorsdottir•Erik C. B. Johnson等 27 人
Nature Aging
2024
•2024/8/21
•00 p.1-19
A deeper understanding of the molecular processes underlying late-onset Alzheimer’s disease (LOAD) could aid in biomarker and drug target discovery. Using high-throughput serum proteomics in the prospective population-based Age, Gene/Environment Susceptibility–Reykjavik Study (AGES) cohort of 5,127 ...
AgeingAlzheimer's diseaseBiomarkersFunctional genomicsProteomics
10.1038/S43587-024-00693-1
ISSN:2662-8465
Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank
Kim Valette•Zhonglin Li•Valentin Bon-Baret•Arnaud Chignon•Jean-Christophe Bérubé等 23 人
Communications Biology
2021
•2021/6/8
•Vol.4 No.1 p.1-15
To identify candidate causal genes of asthma, we performed a genome-wide association study (GWAS) in UK Biobank on a broad asthma definition (n = 56,167 asthma cases and 352,255 controls). We then carried out functional mapping through transcriptome-wide association studies (TWAS) and Mendelian rand...
AsthmaGene expression profilingGenome-wide association studies
10.1038/S42003-021-02227-6
ISSN:2399-3642
Genetically informed causal links between gut microbiota and bone mass: pleiotropy and metabolic mediation
Peng-Lin Guan•Cheng-Da Yuan•Ming-Yu Han•Yi-Hu Fang•Chun-Fu Yu等 17 人
Nature Communications
2025
•2025/11/28
0The interplay among host genetic architecture, gut microbiota, metabolites and bone metabolism remains poorly understood. This study aims to comprehensively investigate the shared genetic factors, causal relationships, and the involvement of blood metabolites between gut microbiota and bone mass, ba...
BoneGenome-wide association studiesMicrobiome
10.1038/S41467-025-66881-8
ISSN:2041-1723
Genetic determinants of proteomic aging
Alexander Mörseburg•Yajie Zhao•Katherine A. Kentistou•John R. B. Perry•Ken K. Ong等 6 人
Npj Aging
2025
•2025/4/26
•Vol.11 No.1 p.1-9
Changes in the proteome and its dysregulation have long been known to be a hallmark of aging. We derived a proteomic aging trait using data on 1459 plasma proteins from 44,435 UK Biobank individuals measured using an antibody-based assay. This metric is strongly associated with four age-related dise...
AgeingGenome
10.1038/S41514-025-00205-4
ISSN:2731-6068
Integrative cross-omics and cross-context analysis elucidates molecular links underlying genetic effects on complex traits
Yihao Lu•Meritxell Oliva•Brandon L. Pierce•Jin Liu•Lin S. Chen
Nature Communications
2024
•2024/3/16
•Vol.15 No.1 p.1-13
Genetic effects on functionally related ‘omic’ traits often co-occur in relevant cellular contexts, such as tissues. Motivated by the multi-tissue methylation quantitative trait loci (mQTLs) and expression QTLs (eQTLs) analysis, we propose X-ING (Cross-INtegrative Genomics) for cross-omics and cross...
DNA methylationEpigenetics
10.1038/S41467-024-46675-0
ISSN:2041-1723
A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening
He Yong-Qiao•Wang Tong-Min•Ji Mingfang•Mai Zhi-Ming•Tang Minzhong等 64 人
Nature Communications
2022
•2022/4/12
•Vol.13 No.1 p.1-10
Polygenic risk scores (PRS) have the potential to identify individuals at risk of diseases, optimizing treatment, and predicting survival outcomes. Here, we construct and validate a genome-wide association study (GWAS) derived PRS for nasopharyngeal carcinoma (NPC), using a multi-center study of six...
Cancer geneticsEpidemiologyPredictive markers
10.1038/S41467-022-29570-4
ISSN:2041-1723
Host control of persistent Epstein–Barr virus infection
Axel Schmidt•T. Madhusankha Alawathurage•Friederike S. David•Yosuke Ogawa•Leonard Frach等 18 人
Nature
2026
•2026/2/19
•00 p.1-13
Epstein–Barr virus (EBV) infects approximately 90–95% of the global population1,2 and persists in B cells as a lifelong infection3. Previous EBV infection is associated with autoimmune and neoplastic disease4. Still, the biological basis of host control during EBV persistence remains unclear. Here w...
Genome-wide association studiesInfectionMultiple sclerosisRisk factorsViral infection
10.1038/S41586-026-10274-4
ISSN:0028-0836
A reference map of potential determinants for the human serum metabolome
Noam Bar•Tal Korem•Omer Weissbrod•David Zeevi•Daphna Rothschild等 14 人
Nature
2020
•2020/11/11
•Vol.588 No.7836 p.135-140
The serum metabolome contains a plethora of biomarkers and causative agents of various diseases, some of which are endogenously produced and some that have been taken up from the environment1. The origins of specific compounds are known, including metabolites that are highly heritable2,3, or those t...
DatabasesMachine learningMetabolomicsMicrobiology
10.1038/S41586-020-2896-2
ISSN:0028-0836
X‐chromosome-wide association study for Alzheimer’s disease
Julie Le Borgne•Lissette Gomez•Sami Heikkinen•Najaf Amin•Shahzad Ahmad等 172 人
Molecular Psychiatry
2024
•2024/12/4
•00 p.1-12
Due to methodological reasons, the X-chromosome has not been featured in the major genome-wide association studies on Alzheimer’s Disease (AD). To address this and better characterize the genetic landscape of AD, we performed an in-depth X-Chromosome-Wide Association Study (XWAS) in 115,841 AD cases...
DiseasesGeneticsNeuroscience
10.1038/S41380-024-02838-5
ISSN:1359-4184
Phenotypic and genetic characteristics of retinal vascular parameters and their association with diseases
Sofía Ortín Vela•Michael J. Beyeler•Olga Trofimova•Ilaria Iuliani•Jose D. Vargas Quiros等 16 人
Nature Communications
2024
•2024/11/6
•Vol.15 No.1 p.1-17
Fundus images allow for non-invasive assessment of the retinal vasculature whose features provide important information on health. Using a fully automated image processing pipeline, we extract 17 different morphological vascular phenotypes, including median vessels diameter, diameter variability, ma...
Cardiovascular biologyGenetic variationGenome-wide association studies
10.1038/S41467-024-52334-1
ISSN:2041-1723
GhostKnockoff inference empowers identification of putative causal variants in genome-wide association studies
He Zihuai•Liu Linxi•Belloy Michael E.•Le Guen Yann•Sossin Aaron等 15 人
Nature Communications
2022
•2022/11/23
•Vol.13 No.1 p.1-16
Recent advances in genome sequencing and imputation technologies provide an exciting opportunity to comprehensively study the contribution of genetic variants to complex phenotypes. However, our ability to translate genetic discoveries into mechanistic insights remains limited at this point. In this...
Genome-wide association studiesStatistics
10.1038/S41467-022-34932-Z
ISSN:2041-1723
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
Nature Genetics
2023
•2023/8/31
•00 p.1-12
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epileps...
EpilepsyGenome-wide association studies
10.1038/S41588-023-01485-W
ISSN:1061-4036
Genetic analyses implicate complex links between adult testosterone levels and health and disease
Leinonen Jaakko T.•Mars Nina•Lehtonen Leevi E.•Ahola-Olli Ari•Ruotsalainen Sanni等 14 人
Communications Medicine
2023
•2023/1/18
•Vol.3 No.1 p.1-15
Testosterone levels are linked with diverse characteristics of human health, yet, whether these associations reflect correlation or causation remains debated. Here, we provide a broad perspective on the role of genetically determined testosterone on complex diseases in both sexes. Leveraging genetic...
Endocrine system and metabolic diseasesGenome-wide association studiesMedical genomicsReproductive biology
10.1038/S43856-022-00226-0
ISSN:2730-664X
DNER as a novel protein contributes to HSCR pathogenesis: multi-omics combined Mendelian randomization analysis
Wei Liu•Wenyao Xu•Jingjing Huang•Jiayi Xu•Zihao Fu等 13 人
Pediatric Research
2026
•2026/2/25
•00 p.1-12
Hirschsprung disease (HSCR) is a congenital disorder characterized by the aganglionosis, which remains disputable and limited biomarkers about pathogenesis. This study employed a multidimensional approach to explore the potential new targets and molecular mechanism for HSCR, including proteome-wide ...
Medicine/Public Health, generalPediatricsPediatric Surgery
10.1038/S41390-026-04789-9
ISSN:0031-3998
The genetic basis of dermatophytosis skin infection susceptibility
Hele Haapaniemi•Reyhane Eghtedarian•Anniina Tervi•Jesse Valliere•Erik Abner等 6 人
Nature Communications
2026
•2026/3/6
•Vol.17 No.1 p.35540
Dermatophytosis is a fungal infection affecting keratinized tissues such as skin, nails, and hair, presenting as red and itchy patches, nail thickening, or hair loss. It affects around 20% of the global population but the genetic architecture remains poorly understood. We performed a genome-wide ass...
BiomarkersDisease genetics
10.1038/S41467-026-69670-Z
ISSN:2041-1723
Contribution of copy number variations to education, socioeconomic status and cognition from a genome-wide study of 305,401 subjects
Xin-Rui Wu•Bang-Sheng Wu•Ju-Jiao Kang•Li-Min Chen•Yue-Ting Deng等 10 人
Molecular Psychiatry
2024
•2024/8/30
•00 p.1-10
Educational attainment (EA), socioeconomic status (SES) and cognition are phenotypically and genetically linked to health outcomes. However, the role of copy number variations (CNVs) in influencing EA/SES/cognition remains unclear. Using a large-scale (n = 305,401) genome-wide CNV-level association ...
GeneticsPsychiatric disorders
10.1038/S41380-024-02717-Z
ISSN:1359-4184
Cardiovascular measures from abdominal MRI provide insights into abdominal vessel genetic architecture
Nicolas Basty•Elena P. Sorokin•Marjola Thanaj•Brandon Whitcher•Yi Liu等 8 人
Communications Medicine
2026
•2026/2/2
•Vol.6 No.1 p.700
Cardiovascular disease remains a major source of morbidity and mortality, and population imaging studies have yielded insights into disease etiology and risk. In this study, we segment the heart, aorta, and vena cava from abdominal magnetic resonance imaging (MRI) scans using deep learning. We gener...
Cardiovascular diseasesCardiovascular geneticsComputational biology and bioinformatics
10.1038/S43856-025-01242-6
ISSN:2730-664X
Cross-ancestry pleiotropic analysis of imaging-derived phenotypes enhances risk stratification of depression
Yu Feng•Xiaonan Guo•Peng Huang•Ningning Jia•Shaohua Hu等 6 人
Molecular Psychiatry
2026
•2026/7/1
•00 p.1-15
Depression arises from dynamic interactions among genetic predisposition, brain alterations, and environmental stressors. Despite genome-wide association studies (GWAS) identifying risk loci, the mechanisms translating genetic variation into brain changes remain elusive. Imaging-derived phenotypes (...
DepressionGenetics
10.1038/S41380-026-03730-0
ISSN:1359-4184
Genetic architecture of host proteins involved in SARS-CoV-2 infection
Maik Pietzner•Eleanor Wheeler•Julia Carrasco-Zanini•Johannes Raffler•Nicola D. Kerrison等 18 人
Nature Communications
2020
•2020/12/16
•Vol.11 No.1 p.1-14
Understanding the genetic architecture of host proteins interacting with SARS-CoV-2 or mediating the maladaptive host response to COVID-19 can help to identify new or repurpose existing drugs targeting those proteins. We present a genetic discovery study of 179 such host proteins among 10,708 indivi...
BiomarkersGenetics
10.1038/S41467-020-19996-Z
ISSN:2041-1723
Multivariate genomic scan implicates novel loci and haem metabolism in human ageing
Paul R. H. J. Timmers•James F. Wilson•Peter K. Joshi•Joris Deelen
Nature Communications
2020
•2020/7/16
•Vol.11 No.1 p.1-10
Ageing phenotypes, such as years lived in good health (healthspan), total years lived (lifespan), and survival until an exceptional old age (longevity), are of interest to us all but require exceptionally large sample sizes to study genetically. Here we combine existing genome-wide association summa...
AgeingGenome-wide association studiesQuantitative trait loci
10.1038/S41467-020-17312-3
ISSN:2041-1723
Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models
Cosentino Justin•Behsaz Babak•Alipanahi Babak•McCaw Zachary R.•Hill Davin等 12 人
Nature Genetics
2023
•2023/4/17
•00 p.1-9
Chronic obstructive pulmonary disease (COPD), the third leading cause of death worldwide, is highly heritable. While COPD is clinically defined by applying thresholds to summary measures of lung function, a quantitative liability score has more power to identify genetic signals. Here we train a deep...
Genome-wide association studiesPopulation genetics
10.1038/S41588-023-01372-4
ISSN:1061-4036
Metabolome-wide association identifies ferredoxin-1 (FDX1) as a determinant of cholesterol metabolism and cardiovascular risk in Asian populations
Nilanjana Sadhu•Rinkoo Dalan•Pritesh R. Jain•Chang Jie Mick Lee•Leroy Sivappiragasam Pakkiri等 41 人
Nature Cardiovascular Research
2025
•2025/5/13
•Vol.4 No.5 p.567-583
The burden of cardiovascular disease is rising in the Asia-Pacific region, in contrast to falling cardiovascular disease mortality rates in Europe and North America. Here we perform quantification of 883 metabolites by untargeted mass spectroscopy in 8,124 Asian adults and investigate their relation...
Molecular medicineSystems biology
10.1038/S44161-025-00638-W
ISSN:2731-0590
The impact of cannabis use on erectile dysfunction and sex hormones: a Mendelian randomization analysis
Youqian Zhang•Yue Su•Zitian Tang•Lin Li
International Journal Of Impotence Research
2024
•2024/6/4
•00 p.1-8
Previous study has highlighted an association between cannabis use (CU) and an increased risk of erectile dysfunction (ED), potentially due to indirect effects on sex hormonal balance. However, the evidence remains controversial, and the causal relationship is unclear. This study utilized genome-wid...
Risk factorsSexual dysfunction
10.1038/S41443-024-00925-3
ISSN:0955-9930
Influence of inflammatory and metabolic factors on keratoconus risk: a causal inference analysis
Pirro G. Hysi•Alison J. Hardcastle•Alice E. Davidson•Loretta Szczotka-Flynn•Anthony P. Khawaja等 9 人
Eye
2026
•2026/2/19
•Vol.40 No.6 p.842-847
Keratoconus is a complex disease of the cornea, in part caused by environmental exposures whose nature is not fully understood. This study relied on previously published results from genome-wide association studies of European ancestry. Summary statistics of available genome-wide association studies...
Corneal diseasesRisk factors
10.1038/S41433-026-04281-Y
ISSN:0950-222X
An atlas of genetic determinants of forearm fracture
Maria Nethander•Sofia Movérare-Skrtic•Anders Kämpe•Eivind Coward•Ene Reimann等 35 人
Nature Genetics
2023
•2023/11/2
•Vol.55 No.11 p.1820-1830
Osteoporotic fracture is among the most common and costly of diseases. While reasonably heritable, its genetic determinants have remained elusive. Forearm fractures are the most common clinically recognized osteoporotic fractures with a relatively high heritability. To establish an atlas of the gene...
Genetics researchTranslational research
10.1038/S41588-023-01527-3
ISSN:1061-4036
IL6 genetic perturbation mimicking IL-6 inhibition is associated with lower cardiometabolic risk
Lanyue Zhang•Murad Omarov•Lingling Xu•Emil deGoma•Pradeep Natarajan等 6 人
Nature Cardiovascular Research
2025
•2025/8/26
•00 p.1-15
Human genetics supports a causal involvement of IL-6 signaling in atherosclerotic cardiovascular disease, prompting the clinical development of anti-IL-6 therapies. Genetic evidence has historically focused on IL6R missense variants, but emerging cardiovascular treatments target IL-6, not its recept...
Drug developmentGenetics research
10.1038/S44161-025-00700-7
ISSN:2731-0590
Co-expression-wide association studies link genetically regulated interactions with complex traits
Mykhaylo M. Malakhov•Wei Pan
Nature Communications
2025
•2025/12/11
•Vol.16 No.1 p.110610
Transcriptome- and proteome-wide association studies (TWAS/PWAS) have proven successful in prioritizing genes and proteins whose genetically regulated expression modulates disease risk, but they ignore potential co-expression and interaction effects. To address this limitation, we introduce the co-e...
Alzheimer's diseaseGenome-wide association studiesParkinson's diseaseProteomic analysisStatistical methods
10.1038/S41467-025-66039-6
ISSN:2041-1723
Epigenome-wide association analysis of infant bronchiolitis severity: a multicenter prospective cohort study
Zhaozhong Zhu•Yijun Li•Robert J. Freishtat•Juan C. Celedón•Janice A. Espinola等 10 人
Nature Communications
2023
•2023/9/7
•Vol.14 No.1 p.1-13
Bronchiolitis is the most common lower respiratory infection in infants, yet its pathobiology remains unclear. Here we present blood DNA methylation data from 625 infants hospitalized with bronchiolitis in a 17-center prospective study, and associate them with disease severity. We investigate differ...
DNA methylationMethylation analysisRespiratory tract diseases
10.1038/S41467-023-41300-Y
ISSN:2041-1723
Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications
Marie C. Sadler•Alexander Apostolov•Caterina Cevallos•Chiara Auwerx•Diogo M. Ribeiro等 7 人
Nature Communications
2025
•2025/3/25
•Vol.16 No.1 p.1-18
Electronic health records (EHRs) coupled with large-scale biobanks offer great promises to unravel the genetic underpinnings of treatment efficacy. However, medication-induced biomarker trajectories stemming from such records remain poorly studied. Here, we extract clinical and medication prescripti...
Data miningGenome-wide association studiesPharmacogeneticsPredictive markers
10.1038/S41467-025-58152-3
ISSN:2041-1723
Whole-genome sequencing analyses suggest novel genetic factors associated with Alzheimer’s disease and a cumulative effects model for risk liability
Jun Pyo Kim•Minyoung Cho•Chanhee Kim•Hyunwoo Lee•Beomjin Jang等 25 人
Nature Communications
2025
•2025/5/26
•Vol.16 No.1 p.1-18
Genome-wide association studies (GWAS) on Alzheimer’s disease (AD) have predominantly focused on identifying common variants in Europeans. Here, we performed whole-genome sequencing (WGS) of 1,559 individuals from a Korean AD cohort to identify various genetic variants and biomarkers associated with...
Genetic association studyGenome-wide association studies
10.1038/S41467-025-59949-Y
ISSN:2041-1723
Reply to: Hultström et al., Genetic determinants of mannose-binding lectin activity predispose to thromboembolic complications in critical COVID-19. Mannose-binding lectin genetics in COVID-19
Asselta Rosanna•Paraboschi Elvezia Maria•Stravalaci Matteo•Invernizzi Pietro•Bonfanti Paolo等 31 人
Nature Immunology
2022
•2022/5/27
•00 p.1-3
Innate immunityViral infection
10.1038/S41590-022-01228-9
ISSN:1529-2908
Diffusion imaging genomics provides novel insight into early mechanisms of cerebral small vessel disease
Quentin Le Grand•Ami Tsuchida•Alexandra Koch•Mohammed-Aslam Imtiaz•N. Ahmad Aziz等 16 人
Molecular Psychiatry
2024
•2024/5/29
•00 p.1-13
Cerebral small vessel disease (cSVD) is a leading cause of stroke and dementia. Genetic risk loci for white matter hyperintensities (WMH), the most common MRI-marker of cSVD in older age, were recently shown to be significantly associated with white matter (WM) microstructure on diffusion tensor ima...
BiomarkersGenetics
10.1038/S41380-024-02604-7
ISSN:1359-4184
Genoppi is an open-source software for robust and standardized integration of proteomic and genetic data
Greta Pintacuda•Frederik H. Lassen•Yu-Han H. Hsu•April Kim•Jacqueline M. Martín等 10 人
Nature Communications
2021
•2021/5/10
•Vol.12 No.1 p.1-10
Combining genetic and cell-type-specific proteomic datasets can generate biological insights and therapeutic hypotheses, but a technical and statistical framework for such analyses is lacking. Here, we present an open-source computational tool called Genoppi (lagelab.org/genoppi) that enables robust...
Amyotrophic lateral sclerosisProtein–protein interaction networksProteome informatics
10.1038/S41467-021-22648-5
ISSN:2041-1723
Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine
Pascal Schlosser•Nora Scherer•Franziska Grundner-Culemann•Sara Monteiro-Martins•Stefan Haug等 32 人
Nature Genetics
2023
•2023/6/5
•00 p.1-14
The kidneys operate at the interface of plasma and urine by clearing molecular waste products while retaining valuable solutes. Genetic studies of paired plasma and urine metabolomes may identify underlying processes. We conducted genome-wide studies of 1,916 plasma and urine metabolites and detecte...
EpidemiologyGenetics researchGenome-wide association studiesGenomicsTranslational research
10.1038/S41588-023-01409-8
ISSN:1061-4036
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
Naomi Wilcox•Martine Dumont•Anna González-Neira•Sara Carvalho•Charles Joly Beauparlant等 57 人
Nature Genetics
2023
•2023/8/17
•00 p.1-5
Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome ...
Breast cancerEpidemiologyGenetics research
10.1038/S41588-023-01466-Z
ISSN:1061-4036
Imaging genetics of language network functional connectivity reveals links with language-related abilities, dyslexia and handedness
Jitse S. Amelink•Merel C. Postema•Xiang-Zhen Kong•Dick Schijven•Amaia Carrión-Castillo等 11 人
Communications Biology
2024
•2024/9/28
•Vol.7 No.1 p.1-13
Language is supported by a distributed network of brain regions with a particular contribution from the left hemisphere. A multi-level understanding of this network requires studying its genetic architecture. We used resting-state imaging data from 29,681 participants (UK Biobank) to measure connect...
Genetics of the nervous systemGenome-wide association studies
10.1038/S42003-024-06890-3
ISSN:2399-3642
Genome-wide association study identifies five risk loci for pernicious anemia
Triin Laisk•Maarja Lepamets•Mariann Koel•Erik Abner•Reedik Mägi
Nature Communications
2021
•2021/6/18
•Vol.12 No.1 p.1-9
Pernicious anemia is a rare condition characterized by vitamin B12 deficiency anemia due to lack of intrinsic factor, often caused by autoimmune gastritis. Patients with pernicious anemia have a higher incidence of other autoimmune disorders, such as type 1 diabetes, vitiligo, and autoimmune thyroid...
Autoimmune diseasesGenetics researchGenome-wide association studies
10.1038/S41467-021-24051-6
ISSN:2041-1723
Genetic analysis of over half a million people characterises C-reactive protein loci
Said Saredo•Pazoki Raha•Karhunen Ville•Võsa Urmo•Ligthart Symen等 17 人
Nature Communications
2022
•2022/4/22
•Vol.13 No.1 p.1-10
Chronic low-grade inflammation is linked to a multitude of chronic diseases. We report the largest genome-wide association study (GWAS) on C-reactive protein (CRP), a marker of systemic inflammation, in UK Biobank participants (N = 427,367, European descent) and the Cohorts for Heart and Aging Resea...
Chronic inflammationData processingGenome-wide association studies
10.1038/S41467-022-29650-5
ISSN:2041-1723
Multiscale analysis and functional validation of the cellular and genetic determinants of skeletal disease
Ryan C. Chai•Mischa Lundberg•Bernard Freudenthal•James T. Smith•Andrew P. Boughton等 50 人
Nature Genetics
2026
•2026/7/10
•00 p.1-16
Musculoskeletal diseases are a major health burden. Development of bone-active therapies has been hindered by limited understanding of the cells and genes that regulate the skeleton. We exploited the value of cross-species analysis and developed single-cell methodologies in skeletal tissues to defin...
Functional genomicsGenome-wide association studiesRNA sequencing
10.1038/S41588-026-02640-9
ISSN:1061-4036
Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans
Pascal Schlosser•Yong Li•Peggy Sekula•Johannes Raffler•Franziska Grundner-Culemann等 17 人
Nature Genetics
2020
•2020/1/20
•Vol.52 No.2 p.167-176
The kidneys integrate information from continuous systemic processes related to the absorption, distribution, metabolism and excretion (ADME) of metabolites. To identify underlying molecular mechanisms, we performed genome-wide association studies of the urinary concentrations of 1,172 metabolites a...
Chronic kidney diseaseGenetics researchGenome-wide association studiesMetabolic disordersPhysiology
10.1038/S41588-019-0567-8
ISSN:1061-4036
Mendelian randomization analyses explore the relationship between cathepsins and lung cancer
Jialin Li•Mingbo Tang•Xinliang Gao•Suyan Tian•Wei Liu
Communications Biology
2023
•2023/10/7
•Vol.6 No.1 p.1-7
Lung cancer, a major contributor to cancer-related fatalities worldwide, involves a complex pathogenesis. Cathepsins, lysosomal cysteine proteases, play roles in various physiological and pathological processes, including tumorigenesis. Observational studies have suggested an association between cat...
Cancer genetics
10.1038/S42003-023-05408-7
ISSN:2399-3642
Comprehensive analysis of genetic risk loci uncovers novel candidate genes and pathways in the comorbidity between depression and Alzheimer’s disease
Bente M. Hofstra•Martien J. H. Kas•Dineke S. Verbeek
Translational Psychiatry
2024
•2024/6/11
•Vol.14 No.1 p.1-8
There is growing evidence of a shared pathogenesis between Alzheimer’s disease and depression. Therefore, we aimed to further investigate their shared disease mechanisms. We made use of publicly available brain-specific eQTL data and gene co-expression networks of previously reported genetic loci as...
GenomicsNeuroscience
10.1038/S41398-024-02968-Y
ISSN:2158-3188
Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes
Emily Olfson•Luis C. Farhat•Wenzhong Liu•Lawrence A. Vitulano•Gwyneth Zai等 11 人
Nature Communications
2024
•2024/7/12
•Vol.15 No.1 p.1-10
Research demonstrates the important role of genetic factors in attention-deficit/hyperactivity disorder (ADHD). DNA sequencing of families provides a powerful approach for identifying de novo (spontaneous) variants, leading to the discovery of hundreds of clinically informative risk genes for other ...
ADHDBehavioural geneticsDNA sequencingGenetic association study
10.1038/S41467-024-50247-7
ISSN:2041-1723
Decoding the spatial chromatin organization and dynamic epigenetic landscapes of macrophage cells during differentiation and immune activation
Lin Da•Xu Weize•Hong Ping•Wu Chengchao•Zhang Zhihui等 28 人
Nature Communications
2022
•2022/10/4
•Vol.13 No.1 p.1-19
Immunocytes dynamically reprogram their gene expression profiles during differentiation and immunoresponse. However, the underlying mechanism remains elusive. Here, we develop a single-cell Hi-C method and systematically delineate the 3D genome and dynamic epigenetic atlas of macrophages during thes...
Chromatin remodellingGene regulationInfection
10.1038/S41467-022-33558-5
ISSN:2041-1723
Examining intergenerational risk factors for conduct problems using polygenic scores in the Norwegian Mother, Father and Child Cohort Study
Leonard Frach•Wikus Barkhuizen•Andrea G. Allegrini•Helga Ask•Laurie J. Hannigan等 11 人
Molecular Psychiatry
2024
•2024/1/16
•00 p.1-11
The aetiology of conduct problems involves a combination of genetic and environmental factors, many of which are inherently linked to parental characteristics given parents’ central role in children’s lives across development. It is important to disentangle to what extent links between parental heri...
GeneticsPsychiatric disordersPsychology
10.1038/S41380-023-02383-7
ISSN:1359-4184
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Hakkaart Christopher•Pearson John F.•Marquart Louise•Dennis Joe•Wiggins George A. R.等 161 人
Communications Biology
2022
•2022/10/6
•Vol.5 No.1 p.1-15
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these r...
CancerCancer genetics
10.1038/S42003-022-03978-6
ISSN:2399-3642
Common health conditions in childhood and adolescence, school absence, and educational attainment: Mendelian randomization study
Amanda Hughes•Kaitlin H. Wade•Matt Dickson•Frances Rice•Alisha Davies等 7 人
Npj Science Of Learning
2021
•2021/1/4
•Vol.6 No.1 p.1-9
Good health is positively related to children’s educational outcomes, but relationships may not be causal. Demonstrating a causal influence would strongly support childhood and adolescent health as important for education policy. We applied genetic causal inference methods to assess the causal relat...
EducationHuman behaviour
10.1038/S41539-020-00080-6
ISSN:2056-7936
The correlation between CpG methylation and gene expression is driven by sequence variants
Olafur Andri Stefansson•Brynja Dogg Sigurpalsdottir•Solvi Rognvaldsson•Gisli Hreinn Halldorsson•Kristinn Juliusson等 32 人
Nature Genetics
2024
•2024/7/24
•Vol.56 No.8 p.1624-1631
Gene promoter and enhancer sequences are bound by transcription factors and are depleted of methylated CpG sites (cytosines preceding guanines in DNA). The absence of methylated CpGs in these sequences typically correlates with increased gene expression, indicating a regulatory role for methylation....
DNA sequencingEpigeneticsGene expressionGenome-wide association studiesGenomics
10.1038/S41588-024-01851-2
ISSN:1061-4036
Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris
Teder-Laving Maris•Kals Mart•Reigo Anu•Ehin Riin•Objärtel Telver等 9 人
European Journal Of Human Genetics
2023
•2023/3/16
•00 p.1-8
Acne vulgaris is a common chronic skin disorder presenting with comedones, cystic structures forming within the distal hair follicle, and in most cases additionally with inflammatory skin lesions on the face and upper torso. We performed a genome-wide association study and meta-analysis of data from...
Genetics researchGenome-wide association studies
10.1038/S41431-023-01326-8
ISSN:1018-4813
Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women
Garan Jones•Katerina Trajanoska•Adam J. Santanasto•Najada Stringa•Chia-Ling Kuo等 66 人
Nature Communications
2021
•2021/1/28
•Vol.12 No.1 p.1-11
Low muscle strength is an important heritable indicator of poor health linked to morbidity and mortality in older people. In a genome-wide association study meta-analysis of 256,523 Europeans aged 60 years and over from 22 cohorts we identify 15 loci associated with muscle weakness (European Working...
Genetic association studyGenetics researchGenomicsPredictive markers
10.1038/S41467-021-20918-W
ISSN:2041-1723
The 1000 Chinese Pangenome empowers medical and population genetics
Yifei Wang•Zhongqu Duan•Dan Chen•Dandan Shi•Yi Ding等 21 人
Nature
2026
•2026/4/1
•00 p.1-10
Pangenomes are revolutionizing our ability to resolve genomic regions with complex variations1. However, existing human pangenomes2,3, constrained by small sample sizes, provide limited utility for medical and population genetic applications. Here we generated 1,116 diploid genome assemblies (55 de ...
Genetic association studyGenetic variationGenome assembly algorithmsSequencingStructural variation
10.1038/S41586-026-10315-Y
ISSN:0028-0836
Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage
David Westergaard•Valgerdur Steinthorsdottir•Lilja Stefansdottir•Palle Duun Rohde•Xiaoping Wu等 41 人
Nature Genetics
2024
•2024/7/22
•Vol.56 No.8 p.1597-1603
Bleeding in early pregnancy and postpartum hemorrhage (PPH) bear substantial risks, with the former closely associated with pregnancy loss and the latter being the foremost cause of maternal death, underscoring the severe impact on maternal–fetal health. We identified five genetic loci linked to PPH...
AnatomyGenome-wide association studiesReproductive disorders
10.1038/S41588-024-01839-Y
ISSN:1061-4036
The Health for Life in Singapore (HELIOS) Study: delivering precision medicine research for Asian populations
Xiaoyan Wang•Theresia Mina•Nilanjana Sadhu•Pritesh R. Jain•Hong Kiat Ng等 43 人
Nature Communications
2025
•2025/12/30
•Vol.17 No.1 p.10
Asian people are under-represented in population-based, clinical, and genomic research. To address this gap, we have initiated the Health for Life in Singapore (HELIOS) longitudinal cohort study, comprising comprehensive behavioural, phenotypic, and genomic measurements from 10,004 Asian men and wom...
Molecular medicineSystems biology
10.1038/S41467-025-65774-0
ISSN:2041-1723
A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases
Jiaqi Yang•Yuanfeng Huang•Zheng Wang•Shiyu Zhang•Dai Wu等 16 人
Npj Parkinson's Disease
2025
•2025/3/17
•Vol.11 No.1 p.1-10
Given the established association between numerous GBA1 variants and specific neurological diseases, we extended the exploration by a phenome-wide association study to assess the impact of GBA1 variants on a wider spectrum of health-related traits. We identified 41 phenotypes associated with GBA1 va...
Computational biology and bioinformaticsDiseasesGeneticsMedical researchNeurologyNeuroscience+2
10.1038/S41531-025-00901-8
ISSN:2373-8057
Prenatal immune stress blunts microglia reactivity, impairing neurocircuitry
Hayes Lindsay N.•An Kyongman•Carloni Elisa•Li Fangze•Vincent Elizabeth等 12 人
Nature
2022
•2022/9/28
•Vol.610 No.7931 p.327-334
Recent studies suggested that microglia, the primary brain immune cells, can affect circuit connectivity and neuronal function1,2. Microglia infiltrate the neuroepithelium early in embryonic development and are maintained in the brain throughout adulthood3,4. Several maternal environmental factors—s...
Cellular neuroscienceDevelopmental disordersMicrogliaNeuroimmunology
10.1038/S41586-022-05274-Z
ISSN:0028-0836
Native Hawaiian and Pacific Islander populations in genomic research
Edra K. Ha•Daniel Shriner•Shawneequa L. Callier•Lorinda Riley•Adebowale A. Adeyemo等 7 人
Npj Genomic Medicine
2024
•2024/9/30
•Vol.9 No.1 p.1-13
The role of genomic research and medicine in improving health continues to grow significantly, highlighting the need for increased equitable inclusion of diverse populations in genomics. Native Hawaiian and Pacific Islander (NHPI) communities are often missing from these efforts to ensure that the b...
Genetics researchGenomics
10.1038/S41525-024-00428-6
ISSN:2056-7944
GWAS for autoimmune Addison’s disease identifies multiple risk loci and highlights AIRE in disease susceptibility
Daniel Eriksson•Ellen Christine Røyrvik•Maribel Aranda-Guillén•Amund Holte Berger•Nils Landegren等 30 人
Nature Communications
2021
•2021/2/11
•Vol.12 No.1 p.1-14
Autoimmune Addison’s disease (AAD) is characterized by the autoimmune destruction of the adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report the first genome-wide association study on AAD, which identifies nine independent risk loci (P...
Adrenal gland diseasesDisease genetics
10.1038/S41467-021-21015-8
ISSN:2041-1723
Tracing human genetic histories and natural selection with precise local ancestry inference
Jon Lerga-Jaso•Biljana Novković•Deepu Unnikrishnan•Varuna Bamunusinghe•Marcelinus R. Hatorangan等 16 人
Nature Communications
2025
•2025/5/16
•Vol.16 No.1 p.1-13
Local ancestry inference is crucial for unraveling demographic histories, discovering selection signals, and including admixed individuals in genomic studies for improved equity and portability. To date, the precision and resolution of local ancestry inference were limited by technical and dataset i...
EvolutionGenomicsPopulation genetics
10.1038/S41467-025-59936-3
ISSN:2041-1723
Recognition and inhibition of SARS-CoV-2 by humoral innate immunity pattern recognition molecules
Stravalaci Matteo•Pagani Isabel•Paraboschi Elvezia Maria•Pedotti Mattia•Doni Andrea等 29 人
Nature Immunology
2022
•2022/1/31
•Vol.23 No.2 p.275-286
The humoral arm of innate immunity includes diverse molecules with antibody-like functions, some of which serve as disease severity biomarkers in coronavirus disease 2019 (COVID-19). The present study was designed to conduct a systematic investigation of the interaction of human humoral fluid-phase ...
Complement cascadePattern recognition receptorsViral infection
10.1038/S41590-021-01114-W
ISSN:1529-2908
Uncovering the multivariate genetic architecture of frailty with genomic structural equation modeling
Isabelle F. Foote•Jonny P. Flint•Anna E. Fürtjes•Jeremy M. Lawrence•Donncha S. Mullin等 16 人
Nature Genetics
2025
•2025/8/4
•00 p.1-12
Frailty is a multifaceted clinical state associated with accelerated aging and adverse health outcomes. Informed etiological models of frailty hold promise for producing widespread health improvements across the aging population. Frailty is currently measured using aggregate scores, which obscure et...
EpidemiologyGenetics researchGenome-wide association studiesOutcomes researchPopulation genetics
10.1038/S41588-025-02269-0
ISSN:1061-4036
Donor and recipient polygenic risk scores influence the risk of post-transplant diabetes
Shaked Abraham•Loza Bao-Li•Van Loon Elisabet•Olthoff Kim M.•Guan Weihua等 17 人
Nature Medicine
2022
•2022/4/7
•00 p.1-7
Post-transplant diabetes mellitus (PTDM) reduces allograft and recipient life span. Polygenic risk scores (PRSs) show robust association with greater risk of developing type 2 diabetes (T2D). We examined the association of PTDM with T2D PRS in liver recipients (n = 1,581) and their donors (n = 1,555...
Prognostic markersRisk factors
10.1038/S41591-022-01758-7
ISSN:1078-8956
FAM13A affects body fat distribution and adipocyte function
Mohsen Fathzadeh•Jiehan Li•Abhiram Rao•Naomi Cook•Indumathi Chennamsetty等 25 人
Nature Communications
2020
•2020/3/19
•Vol.11 No.1 p.1-13
Genetic variation in the FAM13A (Family with Sequence Similarity 13 Member A) locus has been associated with several glycemic and metabolic traits in genome-wide association studies (GWAS). Here, we demonstrate that in humans, FAM13A alleles are associated with increased FAM13A expression in subcuta...
Gene expression profilingGenetic association studyMetabolic diseasesObesity
10.1038/S41467-020-15291-Z
ISSN:2041-1723
Selective remodelling of the adipose niche in obesity and weight loss
Antonio M. A. Miranda•Liam McAllan•Guianfranco Mazzei•Ivan Andrew•Iona Davies等 38 人
Nature
2025
•2025/7/9
•00 p.1-11
Weight loss significantly improves metabolic and cardiovascular health in people with obesity1–3. The remodelling of adipose tissue (AT) is central to these varied and important clinical effects4. However, surprisingly little is known about the underlying mechanisms, presenting a barrier to tre...
Cellular signalling networksGene regulatory networksMetabolic syndromeObesityRNA sequencing
10.1038/S41586-025-09233-2
ISSN:0028-0836
The contributions of mitochondrial and nuclear mitochondrial genetic variation to neuroticism
Charley Xia•Sarah J. Pickett•David C. M. Liewald•Alexander Weiss•Gavin Hudson等 6 人
Nature Communications
2023
•2023/5/30
•Vol.14 No.1 p.1-14
Neuroticism is a heritable trait composed of separate facets, each conferring different levels of protection or risk, to health. By examining mitochondrial DNA in 269,506 individuals, we show mitochondrial haplogroups explain 0.07-0.01% of variance in neuroticism and identify five haplogroup and 15 ...
GeneticsHeritable quantitative traitNeurosciencePsychologyRisk factors
10.1038/S41467-023-38480-Y
ISSN:2041-1723
Functional analysis of cancer-associated germline risk variants
Laura N. Kellman•Poornima H. Neela•Suhas Srinivasan•Zurab Siprashvili•Ronald L. Shanderson等 27 人
Nature Genetics
2025
•2025/2/17
•Vol.57 No.3 p.718-728
Single-nucleotide variants (SNVs) in regulatory DNA are linked to inherited cancer risk. Massively parallel reporter assays of 4,041 SNVs linked to 13 neoplasms comprising >90% of human malignancies were performed in pertinent primary human cell types and then integrated with matching chromatin a...
CancerFunctional genomics
10.1038/S41588-024-02070-5
ISSN:1061-4036
Mendelian randomization study of GLP-1R effects on ovarian cancer subtypes mediated by metabolic factors
Jiajia Liu•Zhihe Chen•Qian Yang•Hong Lin•Shuangyuan Wang等 18 人
Communications Medicine
2026
•2026/1/12
•Vol.6 No.1 p.1130
Ovarian cancer is a major female reproductive health issue with heterogeneous biological features on its subtypes, which may require different therapeutic strategies. Glucagon-like peptide-1 receptor (GLP-1R) agonists were reported to be beneficial for ovarian cancer, but the causal effects and mech...
Drug developmentEndocrine reproductive disordersOvarian cancer
10.1038/S43856-026-01379-Y
ISSN:2730-664X
ADRA2A and IRX1 are putative risk genes for Raynaud’s phenomenon
Sylvia Hartmann•Summaira Yasmeen•Benjamin M. Jacobs•Spiros Denaxas•Munir Pirmohamed等 10 人
Nature Communications
2023
•2023/10/12
•Vol.14 No.1 p.1-11
Raynaud’s phenomenon (RP) is a common vasospastic disorder that causes severe pain and ulcers, but despite its high reported heritability, no causal genes have been robustly identified. We conducted a genome-wide association study including 5,147 RP cases and 439,294 controls, based on diagnoses fro...
Genetics researchRheumatologyTranslational research
10.1038/S41467-023-41876-5
ISSN:2041-1723
Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
Jonggeol Jeffrey Kim•Dan Vitale•Diego Véliz Otani•Michelle Mulan Lian•Karl Heilbron等 18 人
Nature Genetics
2023
•2023/12/28
•00 p.1-10
Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,...
GenomicsParkinson's disease
10.1038/S41588-023-01584-8
ISSN:1061-4036
Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes
Mansour Aly Dina•Dwivedi Om Prakash•Prasad Rashmi B.•Käräjämäki Annemari•Hjort Rebecka等 18 人
Nature Genetics
2021
•2021/11/4
•Vol.53 No.11 p.1534-1542
Type 2 diabetes has been reproducibly clustered into five subtypes with different disease progression and risk of complications; however, etiological differences are unknown. We used genome-wide association and genetic risk score (GRS) analysis to compare the underlying genetic drivers. Individuals ...
DiabetesDiseases
10.1038/S41588-021-00948-2
ISSN:1061-4036
Deciphering the influence of socioeconomic status on brain structure: insights from Mendelian randomization
Charley Xia•Yuechen Lu•Zhuzhuoyu Zhou•Mattia Marchi•Hyeokmoon Kweon等 12 人
Molecular Psychiatry
2025
•2025/5/13
•00 p.1-14
Socioeconomic status (SES) influences physical and mental health, however its relation with brain structure is less well documented. Here, we examine the role of SES on brain structure using Mendelian randomisation. First, we conduct a multivariate genome-wide association study of SES using educatio...
GeneticsNeurosciencePredictive markersPsychology
10.1038/S41380-025-03047-4
ISSN:1359-4184
Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men
Meghana S. Pagadala•Craig C. Teerlink•Guneet K. Jasuja•Madhuri Palnati•Tori Anglin-Foote等 17 人
Nature Communications
2025
•2025/5/2
•Vol.16 No.1 p.1-12
Given the various roles of testosterone in men’s health, we conducted a multi-ancestral genetic analysis of total testosterone, free testosterone, SHBG, and hypogonadism in men within the Million Veteran Program (MVP). Here we identified 157 significant testosterone genetic variants, of which 8 have...
Endocrine system and metabolic diseasesGene expression profilingGenome-wide association studies
10.1038/S41467-025-57372-X
ISSN:2041-1723
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
van Rheenen Wouter•van der Spek Rick A. A.•Bakker Mark K.•van Vugt Joke J. F. A.•Hop Paul J.等 192 人
Nature Genetics
2021
•2021/12/6
•Vol.53 No.12 p.1636-1648
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which iden...
Genome-wide association studiesMotor neuron diseaseNeurodegenerative diseases
10.1038/S41588-021-00973-1
ISSN:1061-4036
Genetic architecture of routinely acquired blood tests in a British South Asian cohort
Benjamin M. Jacobs•Daniel Stow•Sam Hodgson•Julia Zöllner•Miriam Samuel等 17 人
Nature Communications
2024
•2024/10/16
•Vol.15 No.1 p.1-12
Understanding the genetic basis of routinely-acquired blood tests can provide insights into several aspects of human physiology. We report a genome-wide association study of 42 quantitative blood test traits defined using Electronic Healthcare Records (EHRs) of ~50,000 British Bangladeshi and Britis...
Population geneticsRisk factors
10.1038/S41467-024-53091-X
ISSN:2041-1723
A distinct class of pan-cancer susceptibility genes revealed by an alternative polyadenylation transcriptome-wide association study
Hui Chen•Zeyang Wang•Lihai Gong•Qixuan Wang•Wenyan Chen等 17 人
Nature Communications
2024
•2024/2/26
•Vol.15 No.1 p.1-16
Alternative polyadenylation plays an important role in cancer initiation and progression; however, current transcriptome-wide association studies mostly ignore alternative polyadenylation when identifying putative cancer susceptibility genes. Here, we perform a pan-cancer 3′ untranslated region alte...
Cancer geneticsData miningNon-coding RNAs
10.1038/S41467-024-46064-7
ISSN:2041-1723
Genome-wide association study of neck circumference identifies sex-specific loci independent of generalized adiposity
Yaowu Liu•Xiaoyu Zhang•Jiwon Lee•Diane Smelser•Brian Cade等 14 人
International Journal Of Obesity
2021
•2021/4/27
•00 p.1-10
Neck circumference, an index of upper airway fat, has been suggested to be an important measure of body-fat distribution with unique associations with health outcomes such as obstructive sleep apnea and metabolic disease. This study aims to study the genetic bases of neck circumference. We conducted...
DevelopmentGenetics
10.1038/S41366-021-00817-2
ISSN:0307-0565
The Genetic Architecture of the Human Corpus Callosum and its Subregions
Ravi R. Bhatt•Shruti P. Gadewar•Ankush Shetty•Iyad Ba Gari•Elizabeth Haddad等 13 人
Nature Communications
2025
•2025/11/4
•Vol.16 No.1 p.1-20
The corpus callosum (CC) is the largest set of white matter fibers connecting the two hemispheres of the brain. In humans, it is essential for coordinating sensorimotor responses and performing associative or executive functions. Identifying which genetic variants underpin CC morphometry can provide...
Diseases of the nervous systemGenetics of the nervous system
10.1038/S41467-025-64791-3
ISSN:2041-1723
Integrative proteogenomic analyses identify plasma proteins that impact the risk of ischemic stroke
Lazaros Belbasis•Adam von Ende•Parag Gajendragadkar•Elsa Valdes-Marquez•Federico Murgia等 7 人
Communications Medicine
2026
•2026/7/3
•Vol.6 No.1 p.3740
Understanding the proteins implicated in the pathogenesis of ischemic stroke is important for elucidating disease mechanisms and informing prevention strategies. In this study, we aim to identify plasma proteins with a potentially causal effect on risk of ischemic stroke by integrating the largest a...
StrokeTarget identification
10.1038/S43856-026-01734-Z
ISSN:2730-664X
Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci
Hui-Qi Qu•Jingchun Qu•Jonathan Bradfield•Luc Marchand•Joseph Glessner等 13 人
Communications Biology
2021
•2021/7/23
•Vol.4 No.1 p.1-10
Type 1 diabetes (T1D) patients with low genetic risk scores (GRS) may be non-autoimmune or autoimmune mediated by other genetic loci. The T1D-GRS2 provides us an opportunity to look into the genetic architecture of these patients. A total of 18,949 European individuals were included in this study, i...
DiabetesMolecular medicine
10.1038/S42003-021-02368-8
ISSN:2399-3642
Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
Diego Garrido-Martín•Beatrice Borsari•Miquel Calvo•Ferran Reverter•Roderic Guigó
Nature Communications
2021
•2021/2/1
•Vol.12 No.1 p.1-16
Alternative splicing (AS) is a fundamental step in eukaryotic mRNA biogenesis. Here, we develop an efficient and reproducible pipeline for the discovery of genetic variants that affect AS (splicing QTLs, sQTLs). We use it to analyze the GTEx dataset, generating a comprehensive catalog of sQTLs in th...
Computational biology and bioinformaticsTranscriptomics
10.1038/S41467-020-20578-2
ISSN:2041-1723
Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases
Margaret G. Guo•David L. Reynolds•Cheen E. Ang•Yingfei Liu•Yang Zhao等 28 人
Nature Genetics
2023
•2023/10/19
•00 p.1-16
Noncoding variants of presumed regulatory function contribute to the heritability of neuropsychiatric disease. A total of 2,221 noncoding variants connected to risk for ten neuropsychiatric disorders, including autism spectrum disorder, attention deficit hyperactivity disorder, bipolar disorder, bor...
Functional genomicsPsychiatric disorders
10.1038/S41588-023-01533-5
ISSN:1061-4036
Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse
Pujol-Gualdo Natàlia•Läll Kristi•Lepamets Maarja•Rossi Henna-Riikka•Arffman Riikka K.等 8 人
Nature Communications
2022
•2022/6/23
•Vol.13 No.1 p.1-12
Pelvic organ prolapse is a common gynecological condition with limited understanding of its genetic background. In this work, we perform a genome-wide association meta-analysis comprising 28,086 cases and 546,291 controls from European ancestry. We identify 19 novel genome-wide significant loci, hig...
Genetic association studyUrogenital diseases
10.1038/S41467-022-31188-5
ISSN:2041-1723
Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease
Cadby Gemma•Giles Corey•Melton Phillip E.•Huynh Kevin•Mellett Natalie A.等 44 人
Nature Communications
2022
•2022/6/6
•Vol.13 No.1 p.1-17
We integrated lipidomics and genomics to unravel the genetic architecture of lipid metabolism and identify genetic variants associated with lipid species putatively in the mechanistic pathway for coronary artery disease (CAD). We quantified 596 lipid species in serum from 4,492 individuals from the ...
Cardiovascular diseasesGenome-wide association studiesLipidomicsMass spectrometry
10.1038/S41467-022-30875-7
ISSN:2041-1723
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells
Mouri Kousuke•Guo Michael H.•de Boer Carl G.•Lissner Michelle M.•Harten Ingrid A.等 14 人
Nature Genetics
2022
•2022/5/5
•00 p.1-10
Genome-wide association studies (GWASs) have uncovered hundreds of autoimmune disease-associated loci; however, the causal genetic variants within each locus are mostly unknown. Here, we perform high-throughput allele-specific reporter assays to prioritize disease-associated variants for five autoim...
Functional genomicsImmunogenetics
10.1038/S41588-022-01056-5
ISSN:1061-4036
Proteomic signatures of the APOE ε4 and APOE ε2 genetic variants and Alzheimer’s disease
Lina Lu•Alexa Pichet Binette•Ines Hristovska•Shorena Janelidze•Bart Smets等 17 人
Nature Aging
2026
•2026/5/15
•00 p.1-20
The APOE locus is the strongest genetic factor for Alzheimer’s disease, with ε4 increasing and ε2 decreasing risk, yet the basis of these opposing effects remains unclear. Here we performed a multicohort proteomic analysis across plasma and cerebrospinal fluid in GNPC, BioFINDER-2, ADNI, UK BioBank,...
AgeingAlzheimer's diseaseBiomarkersCognitive ageingGenetic association study
10.1038/S43587-026-01123-0
ISSN:2662-8465
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks
Ching-Huang Ho•Maxwell A. Dippel•Meghan S. McQuade•LeAnn P. Nguyen•Arpit Mishra等 17 人
Nature Genetics
2025
•2025/9/18
•00 p.1-10
Genetic variants associated with autoimmune diseases are highly enriched within putative cis-regulatory regions of CD4+ T cells, suggesting that they could alter disease risk through changes in gene regulation. However, very few genetic variants have been shown to affect T cell gene expression or fu...
Autoimmune diseasesFunctional genomicsGene regulationImmunogenetics
10.1038/S41588-025-02301-3
ISSN:1061-4036
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects
Nature Genetics
2025
•2025/6/9
•Vol.57 No.6 p.1426-1436
An inherited, expanded CAG repeat in HTT undergoes further somatic expansion to cause Huntington’s disease (HD). To gain insights into this molecular mechanism, we compared genome-wide association studies of somatic expansion in blood and somatic expansion-driven HD clinical phenotypes. Here, we sho...
Genome-wide association studiesNeurodegenerative diseases
10.1038/S41588-025-02191-5
ISSN:1061-4036
Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma
Yi Han•Qiong Jia•Pedram Shafiei Jahani•Benjamin P. Hurrell•Calvin Pan等 13 人
Nature Communications
2020
•2020/4/15
•Vol.11 No.1 p.1-13
Asthma is a chronic and genetically complex respiratory disease that affects over 300 million people worldwide. Here, we report a genome-wide analysis for asthma using data from the UK Biobank and the Trans-National Asthma Genetic Consortium. We identify 66 previously unknown asthma loci and demonst...
AsthmaGenome-wide association studiesImmunogenetics
10.1038/S41467-020-15649-3
ISSN:2041-1723
Genetic and functional insights into the fractal structure of the heart
Hannah V. Meyer•Timothy J. W. Dawes•Marta Serrani•Wenjia Bai•Paweł Tokarczuk等 20 人
Nature
2020
•2020/8/19
•Vol.584 No.7822 p.589-594
The inner surfaces of the human heart are covered by a complex network of muscular strands that is thought to be a remnant of embryonic development1,2. The function of these trabeculae in adults and their genetic architecture are unknown. Here we performed a genome-wide association study to investig...
Cardiovascular geneticsGenome-wide association studiesHeart failureMagnetic resonance imaging
10.1038/S41586-020-2635-8
ISSN:0028-0836
Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease
Young William J.•Haessler Jeffrey•Benjamins Jan-Walter•Repetto Linda•Yao Jie等 94 人
Nature Communications
2023
•2023/3/14
•Vol.14 No.1 p.1-16
The 3-dimensional spatial and 2-dimensional frontal QRS-T angles are measures derived from the vectorcardiogram. They are independent risk predictors for arrhythmia, but the underlying biology is unknown. Using multi-ancestry genome-wide association studies we identify 61 (58 previously unreported) ...
Genome-wide association studiesGenotype
10.1038/S41467-023-36997-W
ISSN:2041-1723
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits
Jacob M. Keaton•Zoha Kamali•Tian Xie•Ahmad Vaez•Ariel Williams等 147 人
Nature Genetics
2024
•2024/4/30
•00 p.1-14
Hypertension affects more than one billion people worldwide. Here we identify 113 novel loci, reporting a total of 2,103 independent genetic signals (P < 5 × 10−8) from the largest single-stage blood pressure (BP) genome-wide association study to date (n = 1,028,980 European individuals). These a...
HypertensionMetagenomics
10.1038/S41588-024-01714-W
ISSN:1061-4036
Genetic architecture and risk prediction of gestational diabetes mellitus in Chinese pregnancies
Yuqin Gu•Hao Zheng•Piao Wang•Yanhong Liu•Xinxin Guo等 16 人
Nature Communications
2025
•2025/5/5
•Vol.16 No.1 p.1-11
Gestational diabetes mellitus, a heritable metabolic disorder and the most common pregnancy-related condition, remains understudied regarding its genetic architecture and its potential for early prediction using genetic data. Here we conducted genome-wide association studies on 116,144 Chinese pregn...
Endocrine reproductive disordersGestational diabetesPopulation genetics
10.1038/S41467-025-59442-6
ISSN:2041-1723
Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features
John P. Ray•Carl G. de Boer•Charles P. Fulco•Caleb A. Lareau•Masahiro Kanai等 16 人
Nature Communications
2020
•2020/3/6
•Vol.11 No.1 p.1-13
Genome-wide association studies have associated thousands of genetic variants with complex traits and diseases, but pinpointing the causal variant(s) among those in tight linkage disequilibrium with each associated variant remains a major challenge. Here, we use seven experimental assays to characte...
CRISPR-Cas9 genome editingEpigenomicsFunctional genomicsImmunogenetics
10.1038/S41467-020-15022-4
ISSN:2041-1723
Multivariate genomic analysis of 5 million people elucidates the genetic architecture of shared components of the metabolic syndrome
Sanghyeon Park•Soyeon Kim•Beomsu Kim•Dan Say Kim•Jaeyoung Kim等 22 人
Nature Genetics
2024
•2024/9/30
•00 p.1-12
Metabolic syndrome (MetS) is a complex hereditary condition comprising various metabolic traits as risk factors. Although the genetics of individual MetS components have been investigated actively through large-scale genome-wide association studies, the conjoint genetic architecture has not been ful...
Genome-wide association studiesMetabolic disordersPopulation genetics
10.1038/S41588-024-01933-1
ISSN:1061-4036
A genome-wide association study identifies distinct variants associated with pulmonary function among European and African ancestries from the UK Biobank
Sinkala Musalula•Elsheikh Samar S. M.•Mbiyavanga Mamana•Cullinan Joshua•Mulder Nicola J.
Communications Biology
2023
•2023/1/14
•Vol.6 No.1 p.1-11
Pulmonary function is an indicator of well-being, and pulmonary pathologies are the third major cause of death worldwide. We analysed the UK Biobank genome-wide association summary statistics of pulmonary function for Europeans and individuals of recent African descent to identify variants associate...
Data integrationGenome-wide association studies
10.1038/S42003-023-04443-8
ISSN:2399-3642
A common variant in 11q23.3 associated with hyperlipidemia is mediated by the binding and regulation of GATA4
Chou Wen-Cheng•Chen Wei-Ting•Shen Chen-Yang
Npj Genomic Medicine
2022
•2022/1/19
•Vol.7 No.1 p.1-10
Large-scale genome-wide associations comprising multiple studies have identified hundreds of genetic loci commonly associated with hyperlipidemia-related phenotypes. However, single large cohort remains necessary in aiming to investigate ethnicity-specific genetic risks and mechanical insights. A co...
EpidemiologyGene expression analysisGenetic association studyMetabolic syndromePredictive markers
10.1038/S41525-021-00279-5
ISSN:2056-7944
Pathogen-specific innate immune response patterns are distinctly affected by genetic diversity
Antje Häder•Sascha Schäuble•Jan Gehlen•Nadja Thielemann•Benedikt C. Buerfent等 16 人
Nature Communications
2023
•2023/6/5
•Vol.14 No.1 p.1-15
Innate immune responses vary by pathogen and host genetics. We analyze quantitative trait loci (eQTLs) and transcriptomes of monocytes from 215 individuals stimulated by fungal, Gram-negative or Gram-positive bacterial pathogens. We identify conserved monocyte responses to bacterial pathogens and a ...
Antimicrobial responsesImmunogenetics
10.1038/S41467-023-38994-5
ISSN:2041-1723
Disentangling genetic effects on transcriptional and post-transcriptional gene regulation through integrating exon and intron expression QTLs
Anneke Brümmer•Sven Bergmann
Nature Communications
2024
•2024/5/6
•Vol.15 No.1 p.1-13
Expression quantitative trait loci (eQTL) studies typically consider exon expression of genes and discard intronic RNA sequencing reads despite their information on RNA metabolism. Here, we quantify genetic effects on exon and intron levels of genes and their ratio in lymphoblastoid cell lines, reve...
Functional genomicsGene expressionGene regulationGenetic association studyTranscriptomics
10.1038/S41467-024-48244-X
ISSN:2041-1723
European and African ancestry-specific plasma protein-QTL and metabolite-QTL analyses identify ancestry-specific T2D effector proteins and metabolites
Chengran Yang•Priyanka Gorijala•Jigyasha Timsina•Lihua Wang•Menghan Liu等 11 人
Nature Communications
2025
•2025/8/11
•Vol.16 No.1 p.1-15
In this study, we generated and integrated plasma proteomics and metabolomics with the genotype datasets of over 2300 European (EUR) and 400 African (AFR) ancestries to identify ancestry-specific multi-omics quantitative trait loci (QTLs). In total, we mapped 954 AFR pQTLs, 2848 EUR pQTLs, 65 AFR mQ...
DiabetesGenomics
10.1038/S41467-025-62463-W
ISSN:2041-1723
DeepNull models non-linear covariate effects to improve phenotypic prediction and association power
McCaw Zachary R.•Colthurst Thomas•Yun Taedong•Furlotte Nicholas A.•Carroll Andrew等 8 人
Nature Communications
2022
•2022/1/11
•Vol.13 No.1 p.1-10
Genome-wide association studies (GWASs) examine the association between genotype and phenotype while adjusting for a set of covariates. Although the covariates may have non-linear or interactive effects, due to the challenge of specifying the model, GWAS often neglect such terms. Here we introduce D...
Genetic association studyGenetics research
10.1038/S41467-021-27930-0
ISSN:2041-1723
Participation bias in the UK Biobank distorts genetic associations and downstream analyses
Schoeler Tabea•Speed Doug•Porcu Eleonora•Pirastu Nicola•Pingault Jean-Baptiste等 6 人
Nature Human Behaviour
2023
•2023/4/27
•00 p.1-12
While volunteer-based studies such as the UK Biobank have become the cornerstone of genetic epidemiology, the participating individuals are rarely representative of their target population. To evaluate the impact of selective participation, here we derived UK Biobank participation probabilities on t...
Behavioural geneticsGenome-wide association studiesPopulation geneticsQuantitative trait
10.1038/S41562-023-01579-9
ISSN:2397-3374
Polygenic prediction of occupational status GWAS elucidates genetic and environmental interplay in intergenerational transmission, careers and health in UK Biobank
Evelina T. Akimova•Tobias Wolfram•Xuejie Ding•Felix C. Tropf•Melinda C. Mills
Nature Human Behaviour
2024
•2024/12/23
•00 p.1-15
Socioeconomic status (SES) impacts health and life-course outcomes. This genome-wide association study (GWAS) of sociologically informed occupational status measures (ISEI, SIOPS, CAMSIS) using the UK Biobank (N = 273,157) identified 106 independent single-nucleotide polymorphisms of which 8 are nov...
Behavioural geneticsSociology
10.1038/S41562-024-02076-3
ISSN:2397-3374
A methylome-wide association study of major depression with out-of-sample case–control classification and trans-ancestry comparison
Xueyi Shen•Miruna Barbu•Doretta Caramaschi•Ryan Arathimos•Darina Czamara等 79 人
Nature Mental Health
2025
•2025/9/16
•00 p.1-16
Major depression (MD) is a leading cause of global disease burden, and both experimental and population-based studies suggest that differences in DNA methylation may be associated with the condition. However, previous DNA methylation studies have, so far, not been widely replicated, suggesting a nee...
DepressionDNA methylationEpigenomicsPredictive markers
10.1038/S44220-025-00486-4
ISSN:2731-6076
Cross-ancestry genetic architecture reveals shared biological pathways of major psychiatric disorders
Yu Feng•Ningning Jia•Peng Huang•Shaohua Hu•Sheng Yang
Molecular Psychiatry
2026
•2026/3/17
•00 p.1-13
Psychiatric disorders, including bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SCZ), share substantial genetic overlap. We conducted a cross-ancestry multivariate genome-wide association study (GWAS) integrating European and East Asian populations to uncover shared genet...
BiomarkersGeneticsPsychiatric disorders
10.1038/S41380-026-03541-3
ISSN:1359-4184
Genome-wide association study meta-analysis of blood pressure traits and hypertension in sub-Saharan African populations: an AWI-Gen study
Surina Singh•Ananyo Choudhury•Scott Hazelhurst•Nigel J. Crowther•Palwendé R. Boua等 17 人
Nature Communications
2023
•2023/12/16
•Vol.14 No.1 p.1-14
Most hypertension-related genome-wide association studies (GWASs) focus on non-African populations, despite hypertension (a major risk factor for cardiovascular disease) being highly prevalent in Africa. The AWI-Gen study GWAS meta-analysis for blood pressure (BP)-related traits (systolic and diasto...
Genome-wide association studiesHypertension
10.1038/S41467-023-44079-0
ISSN:2041-1723
Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project
Lopera-Maya Esteban A.•Kurilshikov Alexander•van der Graaf Adriaan•Hu Shixian•Andreu-Sánchez Sergio等 21 人
Nature Genetics
2022
•2022/2/3
•Vol.54 No.2 p.143-151
Host genetics are known to influence the gut microbiome, yet their role remains poorly understood. To robustly characterize these effects, we performed a genome-wide association study of 207 taxa and 205 pathways representing microbial composition and function in 7,738 participants of the Dutch Micr...
EpidemiologyGenetics researchGenome-wide association studiesMicrobial genetics
10.1038/S41588-021-00992-Y
ISSN:1061-4036
Considering hormone-sensitive cancers as a single disease in the UK biobank reveals shared aetiology
Ahmed Muktar•Mäkinen Ville-Petteri•Mulugeta Anwar•Shin Jisu•Boyle Terry等 7 人
Communications Biology
2022
•2022/6/21
•Vol.5 No.1 p.1-14
Hormone-related cancers, including cancers of the breast, prostate, ovaries, uterine, and thyroid, globally contribute to the majority of cancer incidence. We hypothesize that hormone-sensitive cancers share common genetic risk factors that have rarely been investigated by previous genomic studies o...
Cancer epidemiologyCancer genetics
10.1038/S42003-022-03554-Y
ISSN:2399-3642
Estimation of the bidirectional relationship between schizophrenia and inflammatory bowel disease using the mendelian randomization approach
Qian Li•He Xiaoyan•Gao Fengjie•Fan Yajuan•Zhao Binbin等 10 人
Schizophrenia
2022
•2022/3/28
•Vol.8 No.1 p.1-6
It has been reported that schizophrenia (SCZ) and inflammatory bowel disease (IBD) are related. However, whether there is a bidirectional interaction between them remains unclear. The aim of this study was to conduct a bidirectional Mendelian randomization (MR) analysis to elucidate the causal relat...
Human behaviourSchizophrenia
10.1038/S41537-022-00244-W
ISSN:2334-265X
Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function
Erkka Valo•Anne Richmond•Stefan Mutter•Emma H. Dahlström•Archie Campbell等 10 人
Nature Communications
2025
•2025/1/2
•Vol.16 No.1 p.1-16
Dissecting the genetic mechanisms underlying urinary metabolite concentrations can provide molecular insights into kidney function and open possibilities for causal assessment of urinary metabolites with risk factors and disease outcomes. Proton nuclear magnetic resonance metabolomics provides a hig...
BiomarkersGenome-wide association studiesHeritable quantitative trait
10.1038/S41467-024-55182-1
ISSN:2041-1723
Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk
Shinwan Kany•Joel T. Rämö•Cody Hou•Sean J. Jurgens•Shaan Khurshid等 16 人
Nature Genetics
2025
•2025/12/19
•00 p.1-10
The genetic influences on normal aortic valve function and their impact on aortic stenosis risk are of substantial interest. We used deep learning to measure peak velocity, mean gradient and aortic valve area from magnetic resonance imaging and conducted genome-wide association studies (GWAS) in 59,...
EpidemiologyGenetics researchValvular disease
10.1038/S41588-025-02397-7
ISSN:1061-4036
The genetic architecture of biological age in nine human organ systems
Junhao Wen•Ye Ella Tian•Ioanna Skampardoni•Zhijian Yang•Yuhan Cui等 11 人
Nature Aging
2024
•2024/6/28
•00 p.1-18
Investigating the genetic underpinnings of human aging is essential for unraveling the etiology of and developing actionable therapies for chronic diseases. Here, we characterize the genetic architecture of the biological age gap (BAG; the difference between machine learning-predicted age and chrono...
AgeingData miningGenome-wide association studies
10.1038/S43587-024-00662-8
ISSN:2662-8465
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis
Jonas Ghouse•Gardar Sveinbjörnsson•Marijana Vujkovic•Anne-Sofie Seidelin•Helene Gellert-Kristensen等 51 人
Nature Genetics
2024
•2024/4/17
•00 p.1-11
We report a multi-ancestry genome-wide association study on liver cirrhosis and its associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase. Using data from 12 cohorts, including 18,265 cases with cirrhosis, 1,782,047 controls, up to 1 million individuals with liver func...
Genome-wide association studiesLiver cirrhosis
10.1038/S41588-024-01720-Y
ISSN:1061-4036
Genome-wide gene-environment interaction study uncovers 162 vitamin D status variants using a precise ambient UVB measure
Rasha Shraim•Maria Timofeeva•Cathy Wyse•Jos van Geffen•Michiel van Weele等 16 人
Nature Communications
2025
•2025/11/28
•Vol.16 No.1 p.107740
Vitamin D status is influenced by genetic and environmental factors—primarily sun exposure. Using satellite weather data, we estimated an ambient UVB dose for each participant based on residential address and date of sampling. We conducted genome-wide tests in 338,977 UK Biobank White British partic...
EpidemiologyGenome-wide association studies
10.1038/S41467-025-65820-X
ISSN:2041-1723
No causal links between estradiol and female’s brain and mental health using Mendelian randomization
Hannah Oppenheimer•Dennis van der Meer•Louise S. Schindler•Arielle Crestol•Alexey Shadrin等 9 人
Nature Communications
2025
•2025/12/5
•Vol.16 No.1 p.109150
The role of estradiol in depression and Alzheimer’s disease – brain disorders that disproportionately affect females – is debated. Results from observational studies are inconsistent and limited by confounding and reverse causation. To overcome these limitations, we perform two-sample Mendelian rand...
Alzheimer's diseaseComputational neuroscienceDepressionGenetics researchPsychology
10.1038/S41467-025-65878-7
ISSN:2041-1723
Identification of candidate DNA methylation biomarkers related to Alzheimer’s disease risk by integrating genome and blood methylome data
Yanfa Sun•Jingjing Zhu•Yaohua Yang•Zichen Zhang•Hua Zhong等 11 人
Translational Psychiatry
2023
•2023/12/13
•Vol.13 No.1 p.1-10
Alzheimer disease (AD) is a common neurodegenerative disease with a late onset. It is critical to identify novel blood-based DNA methylation biomarkers to better understand the extent of the molecular pathways affected in AD. Two sets of blood DNA methylation genetic prediction models developed usin...
BiomarkersDiseasesEpigenetics in the nervous system
10.1038/S41398-023-02695-W
ISSN:2158-3188
Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity
Chin Ik Shin•Khan Aman•Olsson-Brown Anna•Papa Sophie•Middleton Gary等 6 人
Npj Genomic Medicine
2022
•2022/12/24
•Vol.7 No.1 p.1-14
Immune checkpoint inhibitor (ICI) therapy has revolutionised the treatment of various cancer types. ICIs reinstate T-cell function to elicit an anti-cancer immune response. The resulting immune response can however have off-target effects which manifest as autoimmune type serious immune-related adve...
Cancer genomicsCancer immunotherapyPredictive markers
10.1038/S41525-022-00345-6
ISSN:2056-7944
DNA methylation at the suppressor of cytokine signaling 3 (SOCS3) gene influences height in childhood
Prachand Issarapu•Manisha Arumalla•Hannah R. Elliott•Suraj S. Nongmaithem•Alagu Sankareswaran等 25 人
Nature Communications
2023
•2023/8/25
•Vol.14 No.1 p.1-16
Human height is strongly influenced by genetics but the contribution of modifiable epigenetic factors is under-explored, particularly in low and middle-income countries (LMIC). We investigate links between blood DNA methylation and child height in four LMIC cohorts (n = 1927) and identify a robust a...
DevelopmentDNA methylationEpigenomics
10.1038/S41467-023-40607-0
ISSN:2041-1723
Noncoding rare variant associations with blood traits in 166,740 UK Biobank genomes
Diogo M. Ribeiro•Robin J. Hofmeister•Simone Rubinacci•Olivier Delaneau
Nature Genetics
2025
•2025/8/6
•00 p.1-10
Large biobanks with whole-genome sequencing (WGS) now enable the association of noncoding rare variants with complex human traits. Given that >98% of the genome is available for exploration, the selection of noncoding variants remains a critical yet unresolved challenge in these analyses. Here we...
DNA sequencingGenetic association study
10.1038/S41588-025-02288-X
ISSN:1061-4036
Polygenic score analyses on antidepressant response in late-life depression, results from the IRL-GRey study
Samar S. M. Elsheikh•Victoria S. Marshe•Xiaoyu Men•Farhana Islam•Vanessa F. Gonçalves等 12 人
The Pharmacogenomics Journal
2024
•2024/11/22
•Vol.24 No.6 p.1-7
Late-life depression (LLD) is often accompanied by medical comorbidities such as psychiatric disorders and cardiovascular diseases, posing challenges to antidepressant treatment. Recent studies highlighted significant associations between treatment-resistant depression (TRD) and polygenic risk score...
Genetic association studyPharmacogenetics
10.1038/S41397-024-00351-0
ISSN:1470-269X
Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease
Oveis Jamialahmadi•Antonio De Vincentis•Federica Tavaglione•Francesco Malvestiti•Ruifang Li-Gao等 16 人
Nature Medicine
2024
•2024/12/9
•00 p.1-10
Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by an excess of lipids, mainly triglycerides, in the liver and components of the metabolic syndrome, which can lead to cirrhosis and liver cancer. While there is solid epidemiological evidence that MASLD clusters with ...
Genome-wide association studiesRisk factors
10.1038/S41591-024-03284-0
ISSN:1078-8956
Identifying genetic and cellular connections and distinctions among 15 autoimmune diseases using an in-silico approach
Xiao Dang•Frank Qingyun Wang•Caicai Zhang•Yao Lei•Huidong Su等 14 人
Communications Medicine
2026
•2026/3/7
0Despite the identification of numerous genetic loci associated with autoimmune diseases (ADs) through genome-wide association studies (GWAS), elucidating the mechanisms underlying these associations remains challenging. We integrated GWAS results with multi-omics data across diverse immune cell type...
Autoimmune diseasesDisease geneticsGenome-wide association studiesImmunogenetics
10.1038/S43856-026-01487-9
ISSN:2730-664X
Tissue-specific multi-omics analysis of atrial fibrillation
Assum Ines•Krause Julia•Scheinhardt Markus O.•Müller Christian•Hammer Elke等 12 人
Nature Communications
2022
•2022/1/21
•Vol.13 No.1 p.1-15
Genome-wide association studies (GWAS) for atrial fibrillation (AF) have uncovered numerous disease-associated variants. Their underlying molecular mechanisms, especially consequences for mRNA and protein expression remain largely elusive. Thus, refined multi-omics approaches are needed for decipher...
Gene expressionGene regulatory networksGenome-wide association studiesGenomicsProteomics
10.1038/S41467-022-27953-1
ISSN:2041-1723
Identification of blood metabolites associated with risk of Alzheimer’s disease by integrating genomics and metabolomics data
Shuai Liu•Hua Zhong•Jingjing Zhu•Lang Wu
Molecular Psychiatry
2024
•2024/1/12
•00 p.1-10
Specific metabolites have been reported to be potentially associated with Alzheimer’s disease (AD) risk. However, the comprehensive understanding of roles of metabolite biomarkers in AD etiology remains elusive. We performed a large AD metabolome-wide association study (MWAS) by developing blood met...
GeneticsNeuroscience
10.1038/S41380-023-02400-9
ISSN:1359-4184
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci
Yin Xianyong•Chan Lap Sum•Bose Debraj•Jackson Anne U.•VandeHaar Peter等 37 人
Nature Communications
2022
•2022/3/28
•Vol.13 No.1 p.1-14
Few studies have explored the impact of rare variants (minor allele frequency < 1%) on highly heritable plasma metabolites identified in metabolomic screens. The Finnish population provides an ideal opportunity for such explorations, given the multiple bottlenecks and expansions that have shaped ...
BiomarkersGenome-wide association studiesQuantitative trait loci
10.1038/S41467-022-29143-5
ISSN:2041-1723
The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores
Page Madeline L.•Vance Elizabeth L.•Cloward Matthew E.•Ringger Ed•Dayton Louisa等 8 人
Communications Biology
2022
•2022/9/2
•Vol.5 No.1 p.1-15
The process of identifying suitable genome-wide association (GWA) studies and formatting the data to calculate multiple polygenic risk scores on a single genome can be laborious. Here, we present a centralized polygenic risk score calculator currently containing over 250,000 genetic variant associat...
Computational platforms and environmentsGenetic databasesGenetic markersGenome-wide association studiesRisk factors
10.1038/S42003-022-03795-X
ISSN:2399-3642
Genetic architecture of sleep in a genome wide association study of device measured sleep traits
Laura Portas•Hang Yuan•Lina Cai•Karl Smith-Byrne•Stefan van Duijvenboden等 9 人
Nature Communications
2026
•2026/4/1
0Sleep is essential for health and regulated by genetic and environmental factors. We perform genome-wide association studies of device-measured sleep duration, efficiency, and accelerometer-derived rapid eye movement (REM) and non-rapid eye movement (NREM) sleep in 80,013 UK Biobank participants. We...
Health careMedical researchRisk factors
10.1038/S41467-026-71252-Y
ISSN:2041-1723
Genetic associations with carotid intima-media thickness link to atherosclerosis with sex-specific effects in sub-Saharan Africans
Boua Palwende Romuald•Brandenburg Jean-Tristan•Choudhury Ananyo•Sorgho Hermann•Nonterah Engelbert A.等 15 人
Nature Communications
2022
•2022/2/14
•Vol.13 No.1 p.1-11
Atherosclerosis precedes the onset of clinical manifestations of cardiovascular diseases (CVDs). We used carotid intima-media thickness (cIMT) to investigate genetic susceptibility to atherosclerosis in 7894 unrelated adults (3963 women, 3931 men; 40 to 60 years) resident in four sub-Saharan African...
Cardiovascular geneticsGenome-wide association studies
10.1038/S41467-022-28276-X
ISSN:2041-1723
Genetic correlates of vitamin D-binding protein and 25-hydroxyvitamin D in neonatal dried blood spots
Albiñana Clara•Zhu Zhihong•Borbye-Lorenzen Nis•Boelt Sanne Grundvad•Cohen Arieh S.等 21 人
Nature Communications
2023
•2023/2/15
•Vol.14 No.1 p.1-16
The vitamin D binding protein (DBP), encoded by the group-specific component (GC) gene, is a component of the vitamin D system. In a genome-wide association study of DBP concentration in 65,589 neonates we identify 26 independent loci, 17 of which are in or close to the GC gene, with fine-mapping id...
EpidemiologyGenetics research
10.1038/S41467-023-36392-5
ISSN:2041-1723
Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits
Gaurav Thareja•Yasser Al-Sarraj•Aziz Belkadi•Maryam Almotawa•Karsten Suhre等 6 人
Nature Communications
2021
•2021/2/23
•Vol.12 No.1 p.1-10
Clinical laboratory tests play a pivotal role in medical decision making, but little is known about their genetic variability between populations. We report a genome-wide association study with 45 clinically relevant traits from the population of Qatar using a whole genome sequencing approach in a d...
Genetics researchGenome-wide association studies
10.1038/S41467-021-21381-3
ISSN:2041-1723
Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape
Seppe Goovaerts•Hanne Hoskens•Ryan J. Eller•Noah Herrick•Anthony M. Musolf等 20 人
Nature Communications
2023
•2023/11/16
•Vol.14 No.1 p.1-21
The cranial vault in humans is highly variable, clinically relevant, and heritable, yet its genetic architecture remains poorly understood. Here, we conduct a joint multi-ancestry and admixed multivariate genome-wide association study on 3D cranial vault shape extracted from magnetic resonance image...
Genetics researchGenome-wide association studiesMagnetic resonance imagingQuantitative trait
10.1038/S41467-023-43237-8
ISSN:2041-1723
East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease
Yunye He•Masaru Koido•Yoichi Sutoh•Mingyang Shi•Yayoi Otsuka-Yamasaki等 14 人
Nature Genetics
2023
•2023/11/30
•00 p.1-10
Peptic ulcer disease (PUD) refers to acid-induced injury of the digestive tract, occurring mainly in the stomach (gastric ulcer (GU)) or duodenum (duodenal ulcer (DU)). In the present study, we conducted a large-scale, cross-ancestry meta-analysis of PUD combining genome-wide association studies wit...
Genome-wide association studiesPeptic ulcers
10.1038/S41588-023-01569-7
ISSN:1061-4036
The genetic architecture of human cerebellar morphology supports a key role for the cerebellum in human evolution and psychopathology
Torgeir Moberget•Dennis van der Meer•Shahram Bahrami•Daniel Roelfs•Oleksandr Frei等 15 人
Communications Biology
2026
•2026/2/17
•Vol.9 No.1 p.4450
The functional domain of the cerebellum has expanded beyond motor control to also include cognitive and affective functions. In line with this notion, cerebellar volume has increased over recent primate evolution, and cerebellar alterations have been linked to heritable mental disorders. To map the ...
BrainGenetics of the nervous systemPsychiatric disorders
10.1038/S42003-026-09664-1
ISSN:2399-3642
Contribution of genetics to visceral adiposity and its relation to cardiovascular and metabolic disease
Torgny Karlsson•Mathias Rask-Andersen•Gang Pan•Julia Höglund•Claes Wadelius等 7 人
Nature Medicine
2019
•2019/9/9
•Vol.25 No.9 p.1390-1395
Visceral adipose tissue (VAT)—fat stored around the internal organs—has been suggested as an independent risk factor for cardiovascular and metabolic disease1–3, as well as all-cause, cardiovascular-specific and cancer-specific mortality4,5. Yet, the contribution of genetics to VAT, as well as its d...
DiabetesEpidemiologyGenome-wide association studiesObesity
10.1038/S41591-019-0563-7
ISSN:1078-8956
The impact of common and rare genetic variants on bradyarrhythmia development
Lu-Chen Weng•Joel T. Rämö•Sean J. Jurgens•Shaan Khurshid•Mark Chaffin等 63 人
Nature Genetics
2025
•2025/1/2
•00 p.1-12
To broaden our understanding of bradyarrhythmias and conduction disease, we performed common variant genome-wide association analyses in up to 1.3 million individuals and rare variant burden testing in 460,000 individuals for sinus node dysfunction (SND), distal conduction disease (DCD) and pacemake...
ArrhythmiasGenome-wide association studies
10.1038/S41588-024-01978-2
ISSN:1061-4036
A human proteogenomic-cellular framework identifies KIF5A as a modulator of astrocyte process integrity with relevance to ALS
Kornélia Szebényi•Inigo Barrio-Hernandez•George M. Gibbons•Luca Biasetti•Claire Troakes等 7 人
Communications Biology
2023
•2023/6/29
•Vol.6 No.1 p.1-14
Genome-wide association studies identified several disease-causing mutations in neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). However, the contribution of genetic variants to pathway disturbances and their cell type-specific variations, especially in glia, is poorly...
AstrocyteMechanisms of disease
10.1038/S42003-023-05041-4
ISSN:2399-3642
Genome-wide association studies of thyroid-related hormones, dysfunction, and autoimmunity among 85,421 Chinese pregnancies
Yuandan Wei•Jianxin Zhen•Liang Hu•Yuqin Gu•Yanhong Liu等 12 人
Nature Communications
2024
•2024/9/13
•Vol.15 No.1 p.1-17
Maintaining normal thyroid function is crucial in pregnancy, yet thyroid dysfunction and the presence of thyroid peroxidase antibodies (TPOAb) affect 0.5% to 18% of pregnant women. Here, we conducted a genome-wide association study (GWAS) of eight thyroid traits, including two thyroid-related hormon...
Genome-wide association studiesPregnancy outcomeThyroid gland
10.1038/S41467-024-52236-2
ISSN:2041-1723
Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population
Nobuyuki Enzan•Kazuo Miyazawa•Satoshi Koyama•Ryo Kurosawa•Hirotaka Ieki等 30 人
Nature Communications
2025
•2025/11/3
•Vol.16 No.1 p.1-16
To understand the genetic basis of heart failure (HF) in the Japanese population, we performed genome-wide association studies (GWASs) comprising 16,251 all-cause HF cases, 4254 HF with reduced ejection fraction (HFrEF) cases, 7154 HF with preserved ejection fraction cases, and 11,122 non-ischemic H...
Cardiovascular geneticsGenetic variationHeart failure
10.1038/S41467-025-64659-6
ISSN:2041-1723
Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis
Han Younghun•Byun Jinyoung•Zhu Catherine•Sun Ryan•Roh Julia Y.等 23 人
Nature Communications
2023
•2023/2/24
•Vol.14 No.1 p.1-13
Primary sclerosing cholangitis (PSC) is a rare autoimmune bile duct disease that is strongly associated with immune-mediated disorders. In this study, we implemented multitrait joint analyses to genome-wide association summary statistics of PSC and numerous clinical and epidemiological traits to est...
Genetic predisposition to diseaseGenetic variationGenome-wide association studies
10.1038/S41467-023-36678-8
ISSN:2041-1723
Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease
Alexander T. Williams•Jing Chen•Kayesha Coley•Chiara Batini•Abril Izquierdo等 32 人
Nature Communications
2023
•2023/10/23
•Vol.14 No.1 p.1-14
Thyroid hormones play a critical role in regulation of multiple physiological functions and thyroid dysfunction is associated with substantial morbidity. Here, we use electronic health records to undertake a genome-wide association study of thyroid-stimulating hormone (TSH) levels, with a total samp...
Genetics researchGenome-wide association studiesThyroid diseases
10.1038/S41467-023-42284-5
ISSN:2041-1723
Integrated multidimensional bioinformatics analysis of the molecular mechanisms of ulcerative colitis-associated colorectal cancer and MMP1 as a potential therapeutic target
Xiaopeng Yu•Yutian Tang•Junjie Niu•Jinyang Hu
Cancer Gene Therapy
2025
•2025/7/18
•00 p.1-12
This study aimed to investigate the molecular mechanisms underlying ulcerative colitis (UC)-associated colorectal cancer (CRC) development and identify potential therapeutic targets through integrated multi-omics analysis. Mendelian randomization (MR) analysis, combined with bioinformatics approache...
Cancer immunotherapyGastrointestinal cancer
10.1038/S41417-025-00917-5
ISSN:0929-1903
Proteome-wide association study of prostate cancer risk across populations
Hua Zhong•Jingjing Zhu•Shuai Liu•Chong Wu•Liang Wang等 22 人
Nature Communications
2025
•2025/12/6
0There is insufficient understanding of the molecular basis of prostate cancer (PCa) across different populations. We perform a large-scale proteome-wide association study (PWAS) to identify proteins with genetically regulated expression in plasma to be associated with PCa risk across population...
Cancer epidemiologyCancer geneticsProstate cancer
10.1038/S41467-025-66250-5
ISSN:2041-1723
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
Gyda Bjornsdottir•Mona A. Chalmer•Lilja Stefansdottir•Astros Th. Skuladottir•Gudmundur Einarsson等 65 人
Nature Genetics
2023
•2023/10/26
•00 p.1-11
Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migrain...
Genome-wide association studiesNeuroscience
10.1038/S41588-023-01538-0
ISSN:1061-4036
Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases
Samantha L. White•Maizy S. Brasher•Jack Pattee•Wei Zhou•Sinéad Chapman等 85 人
Nature Genetics
2026
•2026/2/5
•Vol.58 No.2 p.307-316
Thyroid diseases are common and highly heritable. We performed a meta-analysis of genome-wide association studies from 19 biobanks for five thyroid diseases: thyroid cancer (ThC), benign nodular goiter, Graves’ disease, lymphocytic thyroiditis and primary hypothyroidism. We analyzed genetic associat...
Genome-wide association studiesThyroid cancer
10.1038/S41588-025-02483-W
ISSN:1061-4036
Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits
Choudhury Ananyo•Brandenburg Jean-Tristan•Chikowore Tinashe•Sengupta Dhriti•Boua Palwende Romuald等 22 人
Nature Communications
2022
•2022/5/11
•Vol.13 No.1 p.1-13
Genetic associations for lipid traits have identified hundreds of variants with clear differences across European, Asian and African studies. Based on a sub-Saharan-African GWAS for lipid traits in the population cross-sectional AWI-Gen cohort (N = 10,603) we report a novel LDL-C association in the ...
Cardiovascular diseasesGenome-wide association studiesQuantitative traitRisk factors
10.1038/S41467-022-30098-W
ISSN:2041-1723
Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function
Gabriel B. Loeb•Pooja Kathail•Richard W. Shuai•Ryan Chung•Reinier J. Grona等 19 人
Nature Genetics
2024
•2024/9/10
•00 p.1-15
Kidney failure, the decrease of kidney function below a threshold necessary to support life, is a major cause of morbidity and mortality. We performed a genome-wide association study (GWAS) of 406,504 individuals in the UK Biobank, identifying 430 loci affecting kidney function in middle-aged adults...
EpigeneticsFunctional genomicsGenome informatics
10.1038/S41588-024-01904-6
ISSN:1061-4036
An integrated drug repositioning analysis identifies rosiglitazone as a treatment for sarcopenia
Shuang Liang•Yong Liu•Hong-Mei Xiao•Hong-Wen Deng
Communications Biology
2026
•2026/1/29
•Vol.9 No.1 p.4430
Age-related sarcopenia is a growing global health challenge with no approved pharmacotherapies. Here, we integrate network-based drug repurposing and Mendelian randomization to identify rosiglitazone, a PPARγ agonist used in diabetes, as a potential therapeutic candidate for sarcopenia. In aged male...
Drug developmentGenetics research
10.1038/S42003-026-09595-X
ISSN:2399-3642
Cell-type-aware transcriptome-wide association studies identify 91 independent risk genes for Alzheimer’s disease dementia
Qiang Liu•Randy L. Parrish•Shizhen Tang•Shinya Tasaki•David A. Bennett等 10 人
Communications Biology
2026
•2026/4/22
0Most existing transcriptome wide association studies (TWASs) of Alzheimer’s Disease (AD) dementia only use bulk RNA-seq data and a single statistical method. Here, we utilize an omnibus TWAS (TWAS-O) pipeline that leverages multiple complementary statistical methods to integrate the snRNA-seq datase...
Alzheimer's diseaseGene expressionGenetic association study
10.1038/S42003-026-10030-4
ISSN:2399-3642
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
Võsa Urmo•Claringbould Annique•Westra Harm-Jan•Bonder Marc Jan•Deelen Patrick等 108 人
Nature Genetics
2021
•2021/9/2
•Vol.53 No.9 p.1300-1310
Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms on the transcriptome. To investigate the genetics of gene expression, we performed cis- and trans-expression quantitative trait locus (eQTL) analyses using blood-derived expression from 31,684 individuals...
Gene expressionGene regulationGenome-wide association studies
10.1038/S41588-021-00913-Z
ISSN:1061-4036
Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
Anqi Wang•Jiayi Shen•Alex A. Rodriguez•Edward J. Saunders•Fei Chen等 291 人
Nature Genetics
2023
•2023/11/9
•00 p.1-10
The transferability and clinical value of genetic risk scores (GRSs) across populations remain limited due to an imbalance in genetic studies across ancestrally diverse populations. Here we conducted a multi-ancestry genome-wide association study of 156,319 prostate cancer cases and 788,443 controls...
Genetics researchGenome-wide association studiesPreventive medicineProstate cancer
10.1038/S41588-023-01534-4
ISSN:1061-4036
Mendelian randomization reveals association between retinal thickness and non-motor symptoms of Parkinson’s disease
Hang Zhou•Bibiao Shen•Zifeng Huang•Shuzhen Zhu•Wanlin Yang等 16 人
Npj Parkinson's Disease
2023
•2023/12/13
•Vol.9 No.1 p.1-10
Retinal thickness is related to Parkinson’s disease (PD), but its association with the severity of PD is still unclear. We conducted a Mendelian randomized (MR) study to explore the association between retinal thickness and PD. For the two-sample MR analysis, the summary statistics obtained from gen...
EpidemiologyNeurodegenerationParkinson's disease
10.1038/S41531-023-00611-Z
ISSN:2373-8057
Genetic influences on brain and cognitive health and their interactions with cardiovascular conditions and depression
Peter Zhukovsky•Earvin S. Tio•Gillian Coughlan•David A. Bennett•Yanling Wang等 10 人
Nature Communications
2024
•2024/6/18
•Vol.15 No.1 p.1-11
Approximately 40% of dementia cases could be prevented or delayed by modifiable risk factors related to lifestyle and environment. These risk factors, such as depression and vascular disease, do not affect all individuals in the same way, likely due to inter-individual differences in genetics. Howev...
DementiaGene expressionGenetic association study
10.1038/S41467-024-49430-7
ISSN:2041-1723
Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation
Saarentaus Elmo C.•Karjalainen Juha•Rämö Joel T.•Kiiskinen Tuomo•Havulinna Aki S.等 18 人
Nature Communications
2023
•2023/1/18
•Vol.14 No.1 p.1-15
Inflammatory and infectious upper respiratory diseases (ICD-10: J30-J39), such as diseases of the sinonasal tract, pharynx and larynx, are growing health problems yet their genomic similarity is not known. We analyze genome-wide association to eight upper respiratory diseases (61,195 cases) among 26...
Genome-wide association studiesPeriodontitisRespiratory tract diseases
10.1038/S41467-022-33626-W
ISSN:2041-1723
Multitrait GWAS and functional validation reveal genetic loci for gastric cancer
Huanxin Ding•Chuxuan Liu•Qing Sun•Yue Jiang•Qian Xu等 20 人
Nature Communications
2026
•2026/3/15
0Gastric cancer is a leading cause of cancer-related death, particularly in East Asia, yet its genetic basis remains incompletely understood. Using genome-wide association study data from BioBank Japan, we show that gastric cancer shares significant genetic associations with 25 other phenotypes, most...
Genome-wide association studiesMedical genomics
10.1038/S41467-026-70774-9
ISSN:2041-1723
Systematic discovery of conservation states for single-nucleotide annotation of the human genome
Adriana Arneson•Jason Ernst
Communications Biology
2019
•2019/7/2
•Vol.2 No.1 p.1-14
Comparative genomics sequence data is an important source of information for interpreting genomes. Genome-wide annotations based on this data have largely focused on univariate scores or binary elements of evolutionary constraint. Here we present a complementary whole genome annotation approach, Con...
Comparative genomicsEvolutionary geneticsGenome informatics
10.1038/S42003-019-0488-1
ISSN:2399-3642
Genetic variants affecting RNA stability influence complex traits and disease risk
Elaine Huang•Ting Fu•Ling Zhang•Guanao Yan•Ryo Yamamoto等 18 人
Nature Genetics
2025
•2025/9/5
•00 p.1-11
Gene expression is modulated jointly by transcriptional regulation and messenger RNA stability, yet the latter is often overlooked in studies on genetic variants. Here, leveraging metabolic labeling data (Bru/BruChase-seq) and a new computational pipeline, RNAtracker, we categorize genes as allele-s...
Gene expressionTranscriptomics
10.1038/S41588-025-02326-8
ISSN:1061-4036
A network-based approach to identify deregulated pathways and drug effects in metabolic syndrome
Karla Misselbeck•Silvia Parolo•Francesca Lorenzini•Valeria Savoca•Lorena Leonardelli等 10 人
Nature Communications
2019
•2019/11/18
•Vol.10 No.1 p.1-14
Metabolic syndrome is a pathological condition characterized by obesity, hyperglycemia, hypertension, elevated levels of triglycerides and low levels of high-density lipoprotein cholesterol that increase cardiovascular disease risk and type 2 diabetes. Although numerous predisposing genetic risk fac...
Computational biology and bioinformaticsData integrationData miningImmunogeneticsSystems biology
10.1038/S41467-019-13208-Z
ISSN:2041-1723
Mapping interindividual dynamics of innate immune response at single-cell resolution
Natsuhiko Kumasaka•Raghd Rostom•Ni Huang•Krzysztof Polanski•Kerstin B. Meyer等 26 人
Nature Genetics
2023
•2023/6/12
•Vol.55 No.6 p.1066-1075
Common genetic variants across individuals modulate the cellular response to pathogens and are implicated in diverse immune pathologies, yet how they dynamically alter the response upon infection is not well understood. Here, we triggered antiviral responses in human fibroblasts from 68 healthy dono...
Autoimmune diseasesInfectious diseasesRNA sequencingSoftwareTranscriptomics
10.1038/S41588-023-01421-Y
ISSN:1061-4036
Therapeutic target prediction for orphan diseases integrating genome-wide and transcriptome-wide association studies
Satoko Namba•Michio Iwata•Shin-Ichi Nureki•Noriko Yuyama Otani•Yoshihiro Yamanishi
Nature Communications
2025
•2025/4/18
•Vol.16 No.1 p.1-15
Therapeutic target identification is challenging in drug discovery, particularly for rare and orphan diseases. Here, we propose a disease signature, TRESOR, which characterizes the functional mechanisms of each disease through genome-wide association study (GWAS) and transcriptome-wide association s...
BioinformaticsDrug developmentGenome-wide analysis of gene expressionMachine learningTarget identification
10.1038/S41467-025-58464-4
ISSN:2041-1723
Polygenic risk and rare variant gene clustering enhance cancer risk stratification for breast and prostate cancers
Joon Ho Kang•Youngkee Lee•Dong Jun Kim•Ji-Woong Kim•Myeong Jae Cheon等 6 人
Communications Biology
2024
•2024/10/9
•Vol.7 No.1 p.1-10
Polygenic risk score (PRS) and rare monogenic variant screening are valuable tools for predicting cancer risk and identifying individuals at high risk. Integrating both common and rare genetic variants is crucial for accurate risk assessment. However, estimating the impacts of rare variants on cance...
Computational biology and bioinformaticsRisk factors
10.1038/S42003-024-06995-9
ISSN:2399-3642
Environmental and genetic predictors of human cardiovascular ageing
Mit Shah•Marco H. de A. Inácio•Chang Lu•Pierre-Raphaël Schiratti•Sean L. Zheng等 18 人
Nature Communications
2023
•2023/8/21
•Vol.14 No.1 p.1-15
Cardiovascular ageing is a process that begins early in life and leads to a progressive change in structure and decline in function due to accumulated damage across diverse cell types, tissues and organs contributing to multi-morbidity. Damaging biophysical, metabolic and immunological factors excee...
Cardiovascular diseasesCardiovascular geneticsGenome-wide association studies
10.1038/S41467-023-40566-6
ISSN:2041-1723
An integrated multi-omics approach identifies the landscape of interferon-α-mediated responses of human pancreatic beta cells
Maikel L. Colli•Mireia Ramos-Rodríguez•Ernesto S. Nakayasu•Maria I. Alvelos•Miguel Lopes等 22 人
Nature Communications
2020
•2020/5/22
•Vol.11 No.1 p.1-17
Interferon-α (IFNα), a type I interferon, is expressed in the islets of type 1 diabetic individuals, and its expression and signaling are regulated by T1D genetic risk variants and viral infections associated with T1D. We presently characterize human beta cell responses to IFNα by combining ATAC-seq...
Cell deathCell signallingSystems biologyType 1 diabetes
10.1038/S41467-020-16327-0
ISSN:2041-1723
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways
Young William J.•Lahrouchi Najim•Isaacs Aaron•Duong ThuyVy•Foco Luisa等 166 人
Nature Communications
2022
•2022/9/1
•Vol.13 No.1 p.1-18
The QT interval is an electrocardiographic measure representing the sum of ventricular depolarization and repolarization, estimated by QRS duration and JT interval, respectively. QT interval abnormalities are associated with potentially fatal ventricular arrhythmia. Using genome-wide multi-ancestry ...
Genetic markersGenome-wide association studies
10.1038/S41467-022-32821-Z
ISSN:2041-1723
Alternative polyadenylation transcriptome-wide association study identifies APA-linked susceptibility genes in brain disorders
Cui Ya•Arnold Frederick J.•Peng Fanglue•Wang Dan•Li Jason Sheng等 9 人
Nature Communications
2023
•2023/2/3
•Vol.14 No.1 p.1-15
Alternative polyadenylation (APA) plays an essential role in brain development; however, current transcriptome-wide association studies (TWAS) largely overlook APA in nominating susceptibility genes. Here, we performed a 3′ untranslated region (3′UTR) APA TWAS (3′aTWAS) for 11 brain disorders by com...
Computational neuroscienceGene regulation
10.1038/S41467-023-36311-8
ISSN:2041-1723
Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements
Tiffany Amariuta•Kazuyoshi Ishigaki•Hiroki Sugishita•Tazro Ohta•Masaru Koido等 12 人
Nature Genetics
2020
•2020/11/30
•Vol.52 No.12 p.1346-1354
Poor trans-ancestry portability of polygenic risk scores is a consequence of Eurocentric genetic studies and limited knowledge of shared causal variants. Leveraging regulatory annotations may improve portability by prioritizing functional over tagging variants. We constructed a resource of 707 cell-...
EpigeneticsFunctional genomicsGeneticsPopulation genetics
10.1038/S41588-020-00740-8
ISSN:1061-4036
Cross-biobank generalizability and accuracy of electronic health record-based predictors compared to polygenic scores
Kira E. Detrois•Tuomo Hartonen•Maris Teder-Laving•Bradley Jermy•Kristi Läll等 9 人
Nature Genetics
2025
•2025/8/27
•00 p.1-10
Electronic health record (EHR)-based phenotype risk scores (PheRS) leverage individuals’ health trajectories to estimate disease risk, similar to how polygenic scores (PGS) use genetic information. While PGS generalizability has been studied, less is known about PheRS generalizability across healthc...
Genetics researchPreventive medicine
10.1038/S41588-025-02298-9
ISSN:1061-4036
Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases
Kiiskinen Tuomo•Helkkula Pyry•Krebs Kristi•Karjalainen Juha•Saarentaus Elmo等 27 人
Nature Medicine
2023
•2023/1/18
•Vol.29 No.1 p.209-218
Little is known about the genetic determinants of medication use in preventing cardiometabolic diseases. Using the Finnish nationwide drug purchase registry with follow-up since 1995, we performed genome-wide association analyses of longitudinal patterns of medication use in hyperlipidemia, hyperten...
IschaemiaPharmacogenomicsRisk factors
10.1038/S41591-022-02122-5
ISSN:1078-8956
Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction
Barbara Schormair•Chen Zhao•Steven Bell•Maria Didriksen•Muhammad S. Nawaz等 67 人
Nature Genetics
2024
•2024/6/5
•Vol.56 No.6 p.1090-1099
Restless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To advance disease prediction and find new entry points for therapy, we performed meta-analyses of genome-wide association studies in 116,647 individuals with ...
Genetics researchGenome-wide association studiesSleep disorders
10.1038/S41588-024-01763-1
ISSN:1061-4036
Artificial intelligence-enhanced electrocardiography derived body mass index as a predictor of future cardiometabolic disease
Libor Pastika•Arunashis Sau•Konstantinos Patlatzoglou•Ewa Sieliwonczyk•Antônio H. Ribeiro等 15 人
Npj Digital Medicine
2024
•2024/6/25
•Vol.7 No.1 p.1-16
The electrocardiogram (ECG) can capture obesity-related cardiac changes. Artificial intelligence-enhanced ECG (AI-ECG) can identify subclinical disease. We trained an AI-ECG model to predict body mass index (BMI) from the ECG alone. Developed from 512,950 12-lead ECGs from the Beth Israel Deaconess ...
DyslipidaemiasMachine learningObesityPrognostic markers
10.1038/S41746-024-01170-0
ISSN:2398-6352
G protein-coupled receptor 151 regulates glucose metabolism and hepatic gluconeogenesis
Bielczyk-Maczynska Ewa•Zhao Meng•Zushin Peter-James H.•Schnurr Theresia M.•Kim Hyun-Jung等 13 人
Nature Communications
2022
•2022/12/1
•Vol.13 No.1 p.1-15
Human genetics has been instrumental in identification of genetic variants linked to type 2 diabetes. Recently a rare, putative loss-of-function mutation in the orphan G-protein coupled receptor 151 (GPR151) was found to be associated with lower odds ratio for type 2 diabetes, but the mechanism behi...
Metabolic diseasesMetabolism
10.1038/S41467-022-35069-9
ISSN:2041-1723
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy
Krzysztof Kiryluk•Elena Sanchez-Rodriguez•Xu-Jie Zhou•Francesca Zanoni•Lili Liu等 188 人
Nature Genetics
2023
•2023/6/19
•00 p.1-15
IgA nephropathy (IgAN) is a progressive form of kidney disease defined by glomerular deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney-biopsy-diagnosed IgAN cases and 28,751 controls across 17 international cohorts. We defined 30 genome-wide significant risk loci ...
Genome-wide association studiesIgA nephropathy
10.1038/S41588-023-01422-X
ISSN:1061-4036
Genetic correlations of psychiatric traits with body composition and glycemic traits are sex- and age-dependent
Christopher Hübel•Héléna A. Gaspar•Jonathan R. I. Coleman•Ken B. Hanscombe•Kirstin Purves等 12 人
Nature Communications
2019
•2019/12/18
•Vol.10 No.1 p.1-12
Body composition is often altered in psychiatric disorders. Using genome-wide common genetic variation data, we calculate sex-specific genetic correlations amongst body fat %, fat mass, fat-free mass, physical activity, glycemic traits and 17 psychiatric traits (up to N = 217,568). Two patterns emer...
Endocrine system and metabolic diseasesFat metabolismGenetic association studyPsychiatric disorders
10.1038/S41467-019-13544-0
ISSN:2041-1723
Genetic basis of right and left ventricular heart shape
Richard Burns•William J. Young•Nay Aung•Luis R. Lopes•Perry M. Elliott等 12 人
Nature Communications
2024
•2024/11/14
•Vol.15 No.1 p.1-17
Heart shape captures variation in cardiac structure beyond traditional phenotypes of mass and volume. Although observational studies have demonstrated associations with cardiometabolic risk factors and diseases, its genetic basis is less understood. We utilised cardiovascular magnetic resonance imag...
Cardiovascular biologyGenetic association study
10.1038/S41467-024-53594-7
ISSN:2041-1723
Genetic architecture of the structural connectome
Michael Wainberg•Natalie J. Forde•Salim Mansour•Isabel Kerrebijn•Sarah E. Medland等 7 人
Nature Communications
2024
•2024/3/4
•Vol.15 No.1 p.1-20
Myelinated axons form long-range connections that enable rapid communication between distant brain regions, but how genetics governs the strength and organization of these connections remains unclear. We perform genome-wide association studies of 206 structural connectivity measures derived from dif...
Genetics of the nervous systemGenome-wide association studies
10.1038/S41467-024-46023-2
ISSN:2041-1723
Identification of risk loci for primary aldosteronism in genome-wide association studies
Le Floch Edith•Cosentino Teresa•Larsen Casper K.•Beuschlein Felix•Reincke Martin等 33 人
Nature Communications
2022
•2022/9/3
•Vol.13 No.1 p.1-17
Primary aldosteronism affects up to 10% of hypertensive patients and is responsible for treatment resistance and increased cardiovascular risk. Here we perform a genome-wide association study in a discovery cohort of 562 cases and 950 controls and identify three main loci on chromosomes 1, 13 and X;...
Adrenal gland diseasesGenome-wide association studiesHypertension
10.1038/S41467-022-32896-8
ISSN:2041-1723
Phenotypic but not genetically predicted heart rate variability associated with all-cause mortality
Balewgizie S. Tegegne•M. Abdullah Said•Alireza Ani•Arie M. van Roon•Sonia Shah等 10 人
Communications Biology
2023
•2023/10/6
•Vol.6 No.1 p.1-10
Low heart rate variability (HRV) has been widely reported as a predictor for increased mortality. However, the molecular mechanisms are poorly understood. Therefore, this study aimed to identify novel genetic loci associated with HRV and assess the association of phenotypic HRV and genetically ...
EpidemiologyGenetics research
10.1038/S42003-023-05376-Y
ISSN:2399-3642
Single-cell lineage analysis reveals extensive multimodal transcriptional control during directed beta-cell differentiation
Chen Weng•Jiajia Xi•Haiyan Li•Jian Cui•Anniya Gu等 10 人
Nature Metabolism
2020
•2020/11/30
•Vol.2 No.12 p.1443-1458
The in vitro differentiation of insulin-producing beta-like cells can model aspects of human pancreatic development. Here, we generate 95,308 single-cell transcriptomes and reconstruct a lineage tree of the entire differentiation process from human embryonic stem cells to beta-like cells to study te...
MetabolismStem-cell differentiationTranscriptomics
10.1038/S42255-020-00314-2
ISSN:2522-5812
Inherited polygenic effects on common hematological traits influence clonal selection on JAK2V617F and the development of myeloproliferative neoplasms
Jing Guo•Klaudia Walter•Pedro M. Quiros•Muxin Gu•E. Joanna Baxter等 16 人
Nature Genetics
2024
•2024/1/17
•00 p.1-8
Myeloproliferative neoplasms (MPNs) are chronic cancers characterized by overproduction of mature blood cells. Their causative somatic mutations, for example, JAK2V617F, are common in the population, yet only a minority of carriers develop MPN. Here we show that the inherited polygenic loci that und...
DNA sequencingPopulation genetics
10.1038/S41588-023-01638-X
ISSN:1061-4036
Prime editor-based high-throughput screening reveals functional synonymous mutations in human cells
Xuran Niu•Wei Tang•Yongshuo Liu•Binrui Mo•Ying Yu等 7 人
Nature Biotechnology
2025
•2025/6/24
•00 p.1-13
Synonymous mutations are generally considered neutral, while their roles in the human genome remain largely unexplored. Here we use the PEmax system to create a library of 297,900 engineered prime-editing guide RNAs and perform extensive screening to identify synonymous mutations affecting cell fitn...
High-throughput screeningMutagenesis
10.1038/S41587-025-02710-Z
ISSN:1087-0156
A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC
Pablo García-González•Héctor Rodrigo Lara•Yaroslau Compta•Manuel Fernandez•Sven J. van der Lee等 79 人
European Journal Of Human Genetics
2025
•2025/5/16
•00 p.1-6
Progressive supranuclear palsy (PSP) is a rare 4-repeat tauopathy that causes behavioural, movement and cognitive abnormalities. We genotyped all available clinical and histopathological PSP cases in Spain and Portugal (N = 522), and conducted the largest PSP GWAS of the Iberian population to date. ...
Genome-wide association studiesNeurodegeneration
10.1038/S41431-025-01872-3
ISSN:1018-4813
Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits
Ciyang Wang•Chengran Yang•Daniel Western•Muhammad Ali•Yueyao Wang等 26 人
Nature Genetics
2024
•2024/11/11
•00 p.1-11
Brain metabolism perturbation can contribute to traits and diseases. We conducted a genome-wide association study for cerebrospinal fluid (CSF) and brain metabolite levels, identifying 205 independent associations (47.3% new signals, containing 11 new loci) for 139 CSF metabolites, and 32 independen...
Genome-wide association studiesNeurological disorders
10.1038/S41588-024-01973-7
ISSN:1061-4036
Faecalibacterium prausnitzii enzyme reprograms PD-L1 trafficking and sensitizes colorectal cancer to immunotherapy in mice
Siqi Ji•Yuanhui Liu•Yuejie Xu•Junzhao Gao•Jingzheng Jin等 14 人
Nature Microbiology
2026
•2026/4/17
•00 p.1-18
Microbiome–host interactions can influence colorectal cancer (CRC) outcomes and the effectiveness of immunotherapy treatment, but the precise mechanisms underlying this are poorly understood. Here we analyse CRC patient cohort data and observe that Facalibacterium prausnitzii abundance in faecal sam...
Cellular microbiologyImmunotherapyTumour-suppressor proteins
10.1038/S41564-026-02326-2
ISSN:2058-5276
Coronary artery disease-associated variants regulate vascular smooth muscle cell gene expression
Nicolas Barbera•Lily Lei•Alexia Wallace•Faruk Erin•R. Noah Perry等 7 人
Nature Cardiovascular Research
2025
•2025/10/7
•Vol.4 No.10 p.1295-1310
Genome-wide association studies have identified over 300 genomic loci associated with coronary artery disease (CAD) risk, but identifying functional variants remains challenging due to linkage disequilibrium. Here we show a comprehensive functional characterization of CAD-associated variants in prim...
Cardiovascular geneticsGenomicsTranscriptional regulatory elements
10.1038/S44161-025-00714-1
ISSN:2731-0590
Biological aging and generational shifts in early-onset cancer risk
Ruiyi Tian•Xiaoyu Zong•Duo Ren•Stefani Tica•Daniel Hong等 9 人
Nature Medicine
2026
•2026/6/22
•00 p.1-8
Incidence of early-onset cancer is rising globally in recent generations, which underscores the need to elucidate the influence of emerging generational risk factors. Systemic and organ-specific aging reflects the cumulative impact of exposures and may provide an integrative and complementary approa...
Cancer epidemiologyRisk factors
10.1038/S41591-026-04448-W
ISSN:1078-8956