UK Biobank | CNS Data Bulletin

UK Biobank

English

数据描述

UK Biobank is a large biomedical database and research resource containing participant health-related data fields, linked data, derived variables generated by researchers, and, for approved projects, biological samples and participant re-contact options. It supports a wide range of health-related research in the public interest, including studies of genetics, imaging, disease, and overall wellbeing. The resource is designed to enable high-quality research that can improve human health, with policies that encourage efficient conversion of depletable samples into reusable, non-depletable data for broader scientific analysis.

www.ukbiobank.ac.uk

IP: 51.140.85.106

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相关论文

144

Identification of novel vertebral development factors through UK Biobank candidate gene search and body imaging analysis

Zhuopin Sun•Jiru Han•Liam G. Fearnley•Edwina McGlinn•Melanie Bahlo

Communications Biology

2025

•2025/11/19

•Vol.8 No.1 p.16140

Numerical variations and transitional anatomy in the human vertebral column represent a significant yet understudied aspect of skeletal development with potential effects on multiple physiological systems. Utilising UK Biobank data, we integrated genetic analysis with deep learning-based multi-modal...

Rare variantsSkeleton

10.1038/S42003-025-09021-8

ISSN:2399-3642

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

Comprehensive interaction modeling with machine learning improves prediction of disease risk in the UK Biobank

Heli Julkunen•Juho Rousu

Nature Communications

2025

•2025/7/18

•Vol.16 No.1 p.1-15

Understanding how risk factors interact to jointly influence disease risk can provide insights into disease development and improve risk prediction. Here we introduce survivalFM, a machine learning extension to the widely used Cox proportional hazards model that enables scalable estimation of all po...

Machine learningPredictive markersPredictive medicine

10.1038/S41467-025-61891-Y

ISSN:2041-1723

A metabolomic profile of biological aging in 250,341 individuals from the UK Biobank

Shiyu Zhang•Zheng Wang•Yijing Wang•Yixiao Zhu•Qiao Zhou等 13 人

Nature Communications

2024

•2024/9/15

•Vol.15 No.1 p.1-19

The metabolomic profile of aging is complex. Here, we analyse 325 nuclear magnetic resonance (NMR) biomarkers from 250,341 UK Biobank participants, identifying 54 representative aging-related biomarkers associated with all-cause mortality. We conduct genome-wide association studies (GWAS) for these ...

BiomarkersDiseasesMolecular biology

10.1038/S41467-024-52310-9

ISSN:2041-1723

Human plasma proteomic profile of clonal hematopoiesis

Zhi Yu•Amélie Vromman•Ngoc Quynh H. Nguyen•Art Schuermans•Linke Li等 52 人

Nature Communications

2025

•2025/11/27

Plasma proteomic profiles associated with subclinical somatic mutations in blood cells may offer insights into downstream clinical consequences. Here we explore these patterns in clonal hematopoiesis of indeterminate potential (CHIP), which is linked to several cancer and non-cancer outcomes, includ...

EpidemiologyMolecular medicinePopulation genetics

10.1038/S41467-025-66755-Z

ISSN:2041-1723

Air pollution and the risk of second primary lung cancer among lung cancer survivors: the prospective UK Biobank cohort study

Eunji Choi•Sophia Luo•Victoria Y. Ding•Anna Graber-Nadich•Julie T. Wu等 10 人

British Journal Of Cancer

2026

•2026/4/27

•00 p.1-7

Lung cancer survivors have a high risk of second primary lung cancer (SPLC). While air pollution is associated with the risk of initial primary lung cancer (IPLC), especially in never smokers, its effect on SPLC risk is unknown. We identified 2439 IPLC patients from the UK Biobank, followed through ...

Cancer epidemiologyLung cancerRisk factors

10.1038/S41416-026-03454-6

ISSN:0007-0920

MSGene: a multistate model using genetic risk and the electronic health record applied to lifetime risk of coronary artery disease

Sarah M. Urbut•Ming Wai Yeung•Shaan Khurshid•So Mi Jemma Cho•Art Schuermans等 14 人

Nature Communications

2024

•2024/6/7

•Vol.15 No.1 p.1-14

Coronary artery disease (CAD) is the leading cause of death among adults worldwide. Accurate risk stratification can support optimal lifetime prevention. Current methods lack the ability to incorporate new information throughout the life course or to combine innate genetic risk factors with acquired...

Cardiovascular geneticsPredictive medicine

10.1038/S41467-024-49296-9

ISSN:2041-1723

Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings

Sean L. Zheng•Sean J. Jurgens•Kathryn A. McGurk•Xiao Xu•Chris Grace等 38 人

Nature Genetics

2025

•2025/2/18

•Vol.57 No.3 p.563-571

Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality, with pathogenic variants found in about a third of cases. Large-scale genome-wide association studies (GWAS) demonstrate that common genetic variation contributes to HCM risk. Here we derive polygenic scores (PGS) fr...

CardiomyopathiesPersonalized medicinePopulation genetics

10.1038/S41588-025-02094-5

ISSN:1061-4036

Phenotypic and genetic analysis of a wellbeing factor score in the UK Biobank and the impact of childhood maltreatment and psychiatric illness

Jamshidi Javad•Schofield Peter R.•Gatt Justine M.•Fullerton Janice M.

Translational Psychiatry

2022

•2022/3/19

•Vol.12 No.1 p.1-10

Wellbeing is an important aspect of mental health that is moderately heritable. Specific wellbeing-related variants have been identified via GWAS meta-analysis of individual questionnaire items. However, a multi-item within-subject index score has potential to capture greater heritability, enabling ...

GenomicsHuman behaviour

10.1038/S41398-022-01874-5

ISSN:2158-3188

A generalizable deep learning system for cardiac MRI

Rohan Shad•Cyril Zakka•Dhamanpreet Kaur•Mrudang Mathur•Robyn Fong等 19 人

Nature Biomedical Engineering

2026

•2026/3/25

•00 p.1-16

Cardiac MRI allows for a comprehensive assessment of myocardial structure, function and tissue characteristics. Here we describe a foundational vision system for cardiac MRI, capable of representing the breadth of human cardiovascular disease and health. Our deep-learning model is trained via self-s...

CardiologyMachine learning

10.1038/S41551-026-01637-3

ISSN:2157-846X

Genome-wide determinants of mortality and motor progression in Parkinson’s disease

Manuela M. X. Tan•Michael A. Lawton•Miriam I. Pollard•Emmeline Brown•Raquel Real等 40 人

Npj Parkinson's Disease

2024

•2024/6/7

•Vol.10 No.1 p.1-15

There are 90 independent genome-wide significant genetic risk variants for Parkinson’s disease (PD) but currently only five nominated loci for PD progression. The biology of PD progression is likely to be of central importance in defining mechanisms that can be used to develop new treatments. We stu...

Genome-wide association studiesParkinson's disease

10.1038/S41531-024-00729-8

ISSN:2373-8057

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

Parent-of-Origin inference for biobanks

Hofmeister Robin J.•Rubinacci Simone•Ribeiro Diogo M.•Buil Alfonso•Kutalik Zoltán等 6 人

Nature Communications

2022

•2022/11/5

•Vol.13 No.1 p.1-15

Identical genetic variations can have different phenotypic effects depending on their parent of origin. Yet, studies focusing on parent-of-origin effects have been limited in terms of sample size due to the lack of parental genomes or known genealogies. We propose a probabilistic approach to infer t...

Computational modelsGenome-wide association studiesImprinting

10.1038/S41467-022-34383-6

ISSN:2041-1723

PIGEON: a statistical framework for estimating gene–environment interaction for polygenic traits

Jiacheng Miao•Gefei Song•Yixuan Wu•Jiaxin Hu•Yuchang Wu等 11 人

Nature Human Behaviour

2025

•2025/5/23

•00 p.1-15

Understanding gene–environment interaction (GxE) is crucial for deciphering the genetic architecture of human complex traits. However, current statistical methods for GxE inference face challenges in both scalability and interpretability. Here we introduce PIGEON—a unified statistical framework for ...

EducationGenetic association study

10.1038/S41562-025-02202-9

ISSN:2397-3374

The impact of assortative mating, participation bias and socioeconomic status on the polygenic risk of behavioural and psychiatric traits

Brenda Cabrera-Mendoza•Frank R. Wendt•Gita A. Pathak•Loic Yengo•Renato Polimanti

Nature Human Behaviour

2024

•2024/2/16

•00 p.1-12

To investigate assortative mating (AM), participation bias and socioeconomic status (SES) with respect to the genetics of behavioural and psychiatric traits, we estimated AM signatures using gametic phase disequilibrium and within-spouses and within-siblings polygenic risk score correlation analyses...

Genome-wide association studiesPsychiatric disorders

10.1038/S41562-024-01828-5

ISSN:2397-3374

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

Common and rare genetic variant associations with cognitive performance across development in British birth cohorts

Daniel S. Malawsky•Mahmoud Koko•Petr Danacek•Wei Huang•Olivia Wootton等 11 人

Nature Human Behaviour

2026

•2026/7/10

•00 p.1-14

Genetic variants that correlate with adult cognitive performance are also associated with rare neurodevelopmental conditions involving cognitive deficits in children. However, their association with cognition across early life remains poorly understood. Using 6,495 children from the Avon Longitudina...

Behavioural geneticsDevelopmentNeurodevelopmental disorders

10.1038/S41562-026-02491-8

ISSN:2397-3374

Evaluating transportability of in vitro cellular models to in vivo human phenotypes using gene perturbation data

Laurence J. Howe•Yurii S. Aulchenko•George Davey Smith•Neil M. Davies•Jorge Esparza-Gordillo等 13 人

Nature Communications

2025

•2025/12/13

Gene perturbation screens (e.g. CRISPR-Cas9) assess the impact of gene disruption on in-vitro cellular phenotypes (e.g., proliferation, anti-viral response). In-vitro experiments can be useful models for in-vivo (organismal) phenotypes (e.g., immune cell anti-viral response and infectious diseases)....

CRISPR-Cas9 genome editingDNA sequencingGenome-wide association studies

10.1038/S41467-025-67199-1

ISSN:2041-1723

Social disadvantage accelerates aging

Mika Kivimäki•Jaana Pentti•Philipp Frank•Fangyu Liu•Acer Blake等 12 人

Nature Medicine

2025

•2025/3/14

•00 p.1-9

Social disadvantage, like advanced age, is a risk factor for a broad range of health conditions; however, whether it influences the aging process remains unclear. Here, using a multicohort approach, we investigated the associations of social disadvantage with age-related plasma proteins and age-rela...

InflammationRisk factors

10.1038/S41591-025-03563-4

ISSN:1078-8956

Predicting myocardial infarction through retinal scans and minimal personal information

Diaz-Pinto Andres•Ravikumar Nishant•Attar Rahman•Suinesiaputra Avan•Zhao Yitian等 17 人

Nature Machine Intelligence

2022

•2022/1/25

•Vol.4 No.1 p.55-61

In ophthalmologic practice, retinal images are routinely obtained to diagnose and monitor primary eye diseases and systemic conditions affecting the eye, such as diabetic retinopathy. Recent studies have shown that biomarkers on retinal images, for example, retinal blood vessel density or tortuosity...

Cardiovascular diseasesComputer scienceMedical imaging

10.1038/S42256-021-00427-7

ISSN:2522-5839

Mitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemia

Sergiu Pasca•Yun Soo Hong•Wen Shi•Daniela Puiu•Nicole J. Lake等 9 人

Nature Communications

2026

•2026/2/18

•Vol.17 No.1 p.28980

Chronic lymphocytic leukemia (CLL) can arise from lymphoid clonal hematopoiesis of indeterminate potential (L-CHIP), but many individuals who develop CLL lack detectable L-CHIP prior to diagnosis. To identify additional predictors of CLL risk, we analyze mitochondrial heteroplasmy in 419,154 individ...

BiomarkersMolecular medicine

10.1038/S41467-026-69861-8

ISSN:2041-1723

Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms

Yun Soo Hong•Sergiu Pasca•Wen Shi•Daniela Puiu•Nicole J. Lake等 14 人

Nature Communications

2024

•2024/11/22

•Vol.15 No.1 p.1-15

Clonal hematopoiesis of indeterminate potential is the primary pathogenic risk factor for myeloid neoplasms, while heteroplasmy (mutations in a subset of cellular mitochondrial DNA) is another marker of clonal expansion associated with hematological malignancies. We explore how these two markers rel...

Haematological cancerMyelodysplastic syndromePredictive markers

10.1038/S41467-024-54443-3

ISSN:2041-1723

Genetic underpinnings and causal effects of brain structure and function on chronic pain intensity

Xiuzhi Wang•Jinyu Liu•Xichen Wang•Jin Yang•Yipeng Le等 13 人

Nature Communications

2025

•2025/11/12

•Vol.16 No.1 p.99580

Chronic pain represents a major clinical burden, with its intensity being a key measure of its severity. However, the genetic and neural underpinnings of chronic pain intensity remain unraveled. Here, we identified six genetic loci (including a novel discovery) significantly associated with chronic ...

Chronic painGenome-wide association studiesNeurological disorders

10.1038/S41467-025-64904-Y

ISSN:2041-1723

A tool for translating polygenic scores onto the absolute scale using summary statistics

Pain Oliver•Gillett Alexandra C.•Austin Jehannine C.•Folkersen Lasse•Lewis Cathryn M.

European Journal Of Human Genetics

2022

•2022/1/4

•00 p.1-10

There is growing interest in the clinical application of polygenic scores as their predictive utility increases for a range of health-related phenotypes. However, providing polygenic score predictions on the absolute scale is an important step for their safe interpretation. We have developed a metho...

Medical genomicsPersonalized medicine

10.1038/S41431-021-01028-Z

ISSN:1018-4813

Estimating disorder probability based on polygenic prediction using the BPC approach

Emil Uffelmann•Alkes L. Price•Danielle Posthuma•Wouter J. Peyrot

Nature Communications

2025

•2025/9/26

•Vol.16 No.1 p.1-13

Polygenic Scores (PGSs) summarize an individual’s genetic propensity for a given trait. Bayesian methods, which improve the prediction accuracy of PGSs, are not well-calibrated for binary disorder traits in ascertained samples. This is a problem because well-calibrated PGSs are needed for future cli...

Disease geneticsGenetic association studyStatistical methods

10.1038/S41467-025-62929-X

ISSN:2041-1723

Plasma-based brain age as a potential biomarker for cognitive health and risk of brain-related disorders

Biqi Wang•Huitong Ding•Derek Qi•Mayra S. Tisminetzky•Joanne M. Murabito等 6 人

Communications Medicine

2025

•2025/11/29

Understanding brain aging is essential for identifying early markers of cognitive decline. This study aimed to develop plasma-based biomarkers of brain aging and examine their associations with cognitive function. We used data from 53,005 UK Biobank participants (2006–2010) with available Olink prot...

EpidemiologyPredictive markers

10.1038/S43856-025-01268-W

ISSN:2730-664X

Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups

Jeewoo Kim•Ariel Williams•Hannah Noh•Elizabeth A. Jasper•Sarah H. Jones等 23 人

Nature Communications

2025

•2025/3/6

•Vol.16 No.1 p.1-13

Uterine leiomyomata or fibroids are highly heritable, common, and benign tumors of the uterus with poorly understood etiology. Previous GWAS have reported 72 associated genes but included limited numbers of non-European individuals. Here, we identify 11 novel genes associated with fibroids across mu...

Genome-wide association studiesPopulation geneticsReproductive disorders

10.1038/S41467-025-57483-5

ISSN:2041-1723

Partner choice, confounding and trait convergence all contribute to phenotypic partner similarity

Sjaarda Jennifer•Kutalik Zoltán

Nature Human Behaviour

2023

•2023/3/16

•00 p.1-14

Partners are often similar in terms of their physical and behavioural traits, such as their education, political affiliation and height. However, it is currently unclear what exactly causes this similarity—partner choice, partner influence increasing similarity over time or confounding factors such ...

Behavioural geneticsPopulation genetics

10.1038/S41562-022-01500-W

ISSN:2397-3374

Patterns of item nonresponse behaviour to survey questionnaires are systematic and associated with genetic loci

Gianmarco Mignogna•Caitlin E. Carey•Robbee Wedow•Nikolas Baya•Mattia Cordioli等 12 人

Nature Human Behaviour

2023

•2023/6/29

•00 p.1-17

Response to survey questionnaires is vital for social and behavioural research, and most analyses assume full and accurate response by participants. However, nonresponse is common and impedes proper interpretation and generalizability of results. We examined item nonresponse behaviour across 109 que...

Behavioural geneticsHuman behaviour

10.1038/S41562-023-01632-7

ISSN:2397-3374

Assortative mating biases marker-based heritability estimators

Border Richard•O’Rourke Sean•de Candia Teresa•Goddard Michael E.•Visscher Peter M.等 8 人

Nature Communications

2022

•2022/2/3

•Vol.13 No.1 p.1-10

Many traits are subject to assortative mating, with recent molecular genetic findings confirming longstanding theoretical predictions that assortative mating induces long range dependence across causal variants. However, all marker-based heritability estimators implicitly assume mating is random. We...

Behavioural geneticsPopulation genetics

10.1038/S41467-022-28294-9

ISSN:2041-1723

An ensemble penalized regression method for multi-ancestry polygenic risk prediction

Jingning Zhang•Jianan Zhan•Jin Jin•Cheng Ma•Ruzhang Zhao等 10 人

Nature Communications

2024

•2024/4/15

•Vol.15 No.1 p.1-14

Great efforts are being made to develop advanced polygenic risk scores (PRS) to improve the prediction of complex traits and diseases. However, most existing PRS are primarily trained on European ancestry populations, limiting their transferability to non-European populations. In this article, we pr...

Genetic association studyGenetic predisposition to disease

10.1038/S41467-024-47357-7

ISSN:2041-1723

Using deep learning to predict abdominal age from liver and pancreas magnetic resonance images

Le Goallec Alan•Diai Samuel•Collin Sasha•Prost Jean-Baptiste•Vincent Théo等 6 人

Nature Communications

2022

•2022/4/13

•Vol.13 No.1 p.1-13

With age, the prevalence of diseases such as fatty liver disease, cirrhosis, and type two diabetes increases. Approaches to both predict abdominal age and identify risk factors for accelerated abdominal age may ultimately lead to advances that will delay the onset of these diseases. We bui...

Genetics researchGenomeMachine learningPredictive markers

10.1038/S41467-022-29525-9

ISSN:2041-1723

A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease

Aniruddh P. Patel•Minxian Wang•Yunfeng Ruan•Satoshi Koyama•Shoa L. Clarke等 20 人

Nature Medicine

2023

•2023/7/6

•Vol.29 No.7 p.1793-1803

Identification of individuals at highest risk of coronary artery disease (CAD)—ideally before onset—remains an important public health need. Prior studies have developed genome-wide polygenic scores to enable risk stratification, reflecting the substantial inherited component to CAD risk. Here we de...

Genetics researchMyocardial infarctionRisk factors

10.1038/S41591-023-02429-X

ISSN:1078-8956

Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency

Saleh Shekari•Stasa Stankovic•Eugene J. Gardner•Gareth Hawkes•Katherine A. Kentistou等 19 人

Nature Medicine

2023

•2023/6/22

•00 p.1-8

Premature ovarian insufficiency (POI) affects 1% of women and is a leading cause of infertility. It is often considered to be a monogenic disorder, with pathogenic variants in ~100 genes described in the literature. We sought to systematically evaluate the penetrance of variants in these genes using...

Endocrine reproductive disordersGenetic testing

10.1038/S41591-023-02405-5

ISSN:1078-8956

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

Sleep 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

Latent brain subtypes of chronotype reveal unique behavioral and health profiles across population cohorts

Le Zhou•Karin Saltoun•Justin Marotta•Shambhavi Aggarwal•Jakub Kopal等 9 人

Nature Communications

2025

•2025/12/22

Chronotype is shaped by the complex interplay of endogenous and exogenous factors. This time-enduring trait ties into societal behaviors and is linked to psychiatric and metabolic conditions. Despite its multifaceted nature, prior research has treated chronotype as a monolithic trait across the...

Human behaviourNeuroscience

10.1038/S41467-025-66784-8

ISSN:2041-1723

Overcoming attenuation bias in regressions using polygenic indices

Hans van Kippersluis•Pietro Biroli•Rita Dias Pereira•Titus J. Galama•Stephanie von Hinke等 10 人

Nature Communications

2023

•2023/7/25

•Vol.14 No.1 p.1-16

Measurement error in polygenic indices (PGIs) attenuates the estimation of their effects in regression models. We analyze and compare two approaches addressing this attenuation bias: Obviously Related Instrumental Variables (ORIV) and the PGI Repository Correction (PGI-RC). Through simulations, we s...

Behavioural geneticsEconomics

10.1038/S41467-023-40069-4

ISSN:2041-1723

Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency

Asmundur Oddsson•Valgerdur Steinthorsdottir•Gudjon R. Oskarsson•Unnur Styrkarsdottir•Kristjan H. S. Moore等 41 人

Nature Genetics

2024

•2024/8/27

•00 p.1-7

Age at menopause (AOM) has a substantial impact on fertility and disease risk. While many loci with variants that associate with AOM have been identified through genome-wide association studies (GWAS) under an additive model, other genetic models are rarely considered1. Here through GWAS meta-analys...

Genetics researchGenome-wide association studiesInfertilityOogenesisPopulation genetics

10.1038/S41588-024-01885-6

ISSN:1061-4036

Tuning parameters for polygenic risk score methods using GWAS summary statistics from training data

Wei Jiang•Ling Chen•Matthew J. Girgenti•Hongyu Zhao

Nature Communications

2024

•2024/1/2

•Vol.15 No.1 p.1-15

Various polygenic risk scores (PRS) methods have been proposed to combine the estimated effects of single nucleotide polymorphisms (SNPs) to predict genetic risks for common diseases, using data collected from genome-wide association studies (GWAS). Some methods require external individual-level GWA...

Computational modelsGenome assembly algorithms

10.1038/S41467-023-44009-0

ISSN:2041-1723

Glycerol-driven TNAP activation in thermogenesis and mineralization

Mohammed Faiz Hussain•Shreya S. Krishnan•Brittany L. Carroll•Bozena Samborska•Aisha Mousa等 28 人

Nature

2026

•2026/4/22

•00 p.1-11

Tissue-nonspecific alkaline phosphatase (TNAP) promotes skeletal mineralization by hydrolysing pyrophosphate1 and has been linked to uncoupling protein 1 (UCP1)-independent adipocyte thermogenesis through the futile creatine cycle through phosphocreatine hydrolysis2,3. Despite TNAP’s broad physiolog...

Dental diseasesEnzyme mechanismsPreclinical research

10.1038/S41586-026-10396-9

ISSN:0028-0836

A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease

Kristjan Norland•Daniel J. Schaid•Iftikhar J. Kullo

European Journal Of Human Genetics

2023

•2023/9/26

•00 p.1-6

Polygenic scores (PGS) for coronary heart disease (CHD) are constructed using GWAS summary statistics for CHD. However, pleiotropy is pervasive in biology and disease-associated variants often share etiologic pathways with multiple traits. Therefore, incorporating GWAS summary statistics of addition...

Genetic markersPredictive markers

10.1038/S41431-023-01463-0

ISSN:1018-4813

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

The genetic architecture of pneumonia susceptibility implicates mucin biology and a relationship with psychiatric illness

Reay William R.•Geaghan Michael P.•Cairns Murray J.

Nature Communications

2022

•2022/6/29

•Vol.13 No.1 p.1-16

Pneumonia remains one of the leading causes of death worldwide. In this study, we use genome-wide meta-analysis of lifetime pneumonia diagnosis (N = 391,044) to identify four association signals outside of the previously implicated major histocompatibility complex region. Integrative analyses and fi...

Genetic association studyInfectious diseasesPopulation genetics

10.1038/S41467-022-31473-3

ISSN:2041-1723

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

Machine learning-based proteogenomic data modeling identifies circulating plasma biomarkers for early detection of lung cancer

Marcela A. Johnson•Shirley Nieves-Rodriguez•Liping Hou•Bevan Emma Huang•Assieh Saadatpour等 6 人

Communications Medicine

2026

•2026/3/13

Genetic aberrations are among the critical driving factors of lung cancer. Importantly, the impact of genetic variations on proteomic dysregulations with the goal of characterizing potential diagnostic biomarkers at the population-level requires additional investigation. Modeling such proteogenomic ...

CancerComputational biology and bioinformatics

10.1038/S43856-026-01500-1

ISSN:2730-664X

Sex disparities in deep learning estimation of ejection fraction from cardiac magnetic resonance imaging

Dhamanpreet Kaur•Rohan Shad•Abhinav Kumar•Mrudang Mathur•Joseph Cho等 9 人

Npj Digital Medicine

2026

•2026/1/23

•Vol.9 No.1 p.1460

The advent of artificial intelligence in cardiovascular imaging holds immense potential for earlier diagnoses, precision medicine, and improved disease management. However, the presence of sex-based disparities and strategies to mitigate biases in deep learning models for cardiac imaging remain unde...

Magnetic resonance imagingMedical imaging

10.1038/S41746-025-02330-6

ISSN:2398-6352

Multimodal deep learning of fundus abnormalities and traditional risk factors for cardiovascular risk prediction

Lee Yeong Chan•Cha Jiho•Shim Injeong•Park Woong-Yang•Kang Se Woong等 7 人

Npj Digital Medicine

2023

•2023/2/2

•Vol.6 No.1 p.1-10

Cardiovascular disease (CVD), the leading cause of death globally, is associated with complicated underlying risk factors. We develop an artificial intelligence model to identify CVD using multimodal data, including clinical risk factors and fundus photographs from the Samsung Medical Center (SMC) f...

Cardiovascular diseasesCerebrovascular disordersPredictive markersRisk factors

10.1038/S41746-023-00748-4

ISSN:2398-6352

Extending genome-wide association studies to admixed cohorts with high degrees of relatedness

Taotao Tan•Alejandra Vergara-Lope•José Jaime Martínez-Magaña•Nirav N. Shah•Yi-Sian Lin等 15 人

Nature Genetics

2026

•2026/7/20

•00 p.1-9

Admixed populations comprise a large portion of the human population worldwide, but are often excluded from genome-wide association studies (GWASs) due to analytic challenges. Our group developed Tractor, a local-ancestry-informed GWAS tool designed for admixed samples that produces accurate ancestr...

Genetics researchGenome-wide association studiesSoftware

10.1038/S41588-026-02689-6

ISSN:1061-4036

Berberine signature and cardiometabolic diseases using randomized controlled trial, cohort study and Mendelian randomization

Jie V. Zhao•Vishal Sarsani•Bing Chen•Huan Yun•Jie Hu等 6 人

Npj Cardiovascular Health

2026

•2026/3/25

•Vol.3 No.1 p.150

Berberine lowers both lipids and glucose, yet its role on cardiometabolic disease risk remain unclear. Based on a randomized controlled trial of berberine (registered in ClinicalTrials.gov on Dec 2018, NCT03770325), leveraging proteomics and sex hormones data, we built a signature reflecting respons...

Cardiovascular diseasesEndocrine system and metabolic diseases

10.1038/S44325-026-00113-W

ISSN:2948-2836

Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure

Rämö Joel T.•Kiiskinen Tuomo•Seist Richard•Krebs Kristi•Kanai Masahiro等 23 人

Nature Communications

2023

•2023/1/18

•Vol.14 No.1 p.1-14

Otosclerosis is one of the most common causes of conductive hearing loss, affecting 0.3% of the population. It typically presents in adulthood and half of the patients have a positive family history. The pathophysiology of otosclerosis is poorly understood. A previous genome-wide association study (...

Disease geneticsGenetics researchMetabolic bone diseaseMolecular medicine

10.1038/S41467-022-32936-3

ISSN:2041-1723

Distinct biological signature and modifiable risk factors underlie the comorbidity between major depressive disorder and cardiovascular disease

Jacob Bergstedt•Joëlle A. Pasman•Ziyan Ma•Arvid Harder•Shuyang Yao等 26 人

Nature Cardiovascular Research

2024

•2024/6/17

•Vol.3 No.6 p.754-769

Major depressive disorder (MDD) and cardiovascular disease (CVD) are often comorbid, resulting in excess morbidity and mortality. Here we show that CVDs share most of their genetic risk factors with MDD. Multivariate genome-wide association analysis of shared genetic liability between MDD and athero...

Cardiovascular diseasesGenetics researchGenome-wide association studies

10.1038/S44161-024-00488-Y

ISSN:2731-0590

Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling

Katherine A. Kentistou•Brandon E. M. Lim•Lena R. Kaisinger•Valgerdur Steinthorsdottir•Luke N. Sharp等 22 人

Nature Communications

2025

•2025/1/14

•Vol.16 No.1 p.1-12

Investigating the genetic factors influencing human birth weight may lead to biological insights into fetal growth and long-term health. We report analyses of rare variants that impact birth weight when carried by either fetus or mother, using whole exome sequencing data in up to 234,675 participant...

Genetic association studyHeritable quantitative trait

10.1038/S41467-024-55761-2

ISSN:2041-1723

Proteomics identifies potential immunological drivers of postinfection brain atrophy and cognitive decline

Michael R. Duggan•Zhongsheng Peng•Pyry N. Sipilä•Joni V. Lindbohm•Jingsha Chen等 25 人

Nature Aging

2024

•2024/8/14

•00 p.1-16

Infections have been associated with the incidence of Alzheimer disease and related dementias, but the mechanisms responsible for these associations remain unclear. Using a multicohort approach, we found that influenza, viral, respiratory, and skin and subcutaneous infections were associated with in...

Cognitive ageingMolecular neuroscience

10.1038/S43587-024-00682-4

ISSN:2662-8465

Intrauterine growth and the tangential expansion of the human cerebral cortex in times of food scarcity and abundance

Daniel E. Vosberg•Igor Jurisica•Zdenka Pausova•Tomáš Paus

Nature Communications

2024

•2024/2/13

•Vol.15 No.1 p.1-9

Tangential growth of the human cerebral cortex is driven by cell proliferation during the first and second trimester of pregnancy. Fetal growth peaks in mid-gestation. Here, we explore how genes associated with fetal growth relate to cortical growth. We find that both maternal and fetal genetic vari...

Development of the nervous systemGenetic markersRisk factors

10.1038/S41467-024-45409-6

ISSN:2041-1723

UK Biobank: a globally important resource for cancer research

Conroy Megan C.•Lacey Ben•Bešević Jelena•Omiyale Wemimo•Feng Qi等 13 人

British Journal Of Cancer

2022

•2022/11/19

•Vol.128 No.4 p.519-527

UK Biobank is a large-scale prospective study with deep phenotyping and genomic data. Its open-access policy allows researchers worldwide, from academia or industry, to perform health research in the public interest. Between 2006 and 2010, the study recruited 502,000 adults aged 40–69 years from the...

Cancer epidemiologyEpidemiologyGenetics researchResearch data

10.1038/S41416-022-02053-5

ISSN:0007-0920

Estimation of direct and indirect polygenic effects and gene–environment interactions using polygenic scores in case–parent trio studies

Ziqiao Wang•Luke Grosvenor•Debashree Ray•Tianyuan Cheng•Ingo Ruczinski等 9 人

Nature Genetics

2026

•2026/6/2

•00 p.1-11

We have proposed PGS-TRI, a framework for analyzing polygenic scores (PGSs) in case–parent trio studies that estimate the risk of an index condition associated with direct PGS effects, gene–environment interactions and asymmetrical maternal and paternal indirect effects. Simulations confirm its robu...

Autism spectrum disordersGenetic association study

10.1038/S41588-026-02601-2

ISSN:1061-4036

Quantifying portable genetic effects and improving cross-ancestry genetic prediction with GWAS summary statistics

Miao Jiacheng•Guo Hanmin•Song Gefei•Zhao Zijie•Hou Lin等 6 人

Nature Communications

2023

•2023/2/14

•Vol.14 No.1 p.1-13

Polygenic risk scores (PRS) calculated from genome-wide association studies (GWAS) of Europeans are known to have substantially reduced predictive accuracy in non-European populations, limiting their clinical utility and raising concerns about health disparities across ancestral populations. Here, w...

Genetic association studyGenome-wide association studiesPredictive medicine

10.1038/S41467-023-36544-7

ISSN:2041-1723

Plasma proteomic profiles linked to suicidal behaviors

Bei Zhang•Jia You•Edmund T. Rolls•Peng Ren•Yuzhu Li等 10 人

Nature Mental Health

2026

•2026/2/23

•Vol.4 No.3 p.387-399

Suicidality is a major public health concern, and characterizing plasma proteomic profiles linked to suicidal behaviors (SBs, including suicide attempt and death by suicide) offers promising avenues for developing novel therapeutic targets. In this study, leveraging data from 53,026 UK Biobank parti...

Blood proteinsPsychiatric disorders

10.1038/S44220-025-00582-5

ISSN:2731-6076

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

Genetic trade-offs in fertility and longevity explain the maintenance of disease-associated alleles in humans

Eva Brigos-Barril•Claudia Vasallo•Xavier Farré•Carlos Morcillo-Suárez•Sara Polo-Alonso等 13 人

Nature Ecology & Evolution

2026

•2026/7/21

•00 p.1-12

Genetic variants that increase the risk for complex diseases persist in human populations, despite adverse effects on health and longevity. Life-history theory predicts that such alleles can be maintained by trade-offs arising from pleiotropy, yet direct genomic evidence has been limited. We asked w...

EpidemiologyEvolutionary geneticsGenomics

10.1038/S41559-026-03140-Z

ISSN:2397-334X

Cardiac adaptation to endurance exercise training requires suppression of GDF15 via PGC-1α

Sumeet A. Khetarpal•Haobo Li•Tevis Vitale•James Rhee•Saketh Challa等 36 人

Nature Cardiovascular Research

2025

•2025/9/24

•00 p.1-18

Endurance exercise promotes adaptive growth and improved function of myocytes, which is supported by increased mitochondrial activity. In skeletal muscle, these benefits are in part transcriptionally coordinated by peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1α). The im...

Energy metabolismHeart failure

10.1038/S44161-025-00712-3

ISSN:2731-0590

Genetic risk factors have a substantial impact on healthy life years

Jukarainen Sakari•Kiiskinen Tuomo•Kuitunen Sara•Havulinna Aki S.•Karjalainen Juha等 12 人

Nature Medicine

2022

•2022/9/12

•Vol.28 No.9 p.1893-1901

The impact of genetic variation on overall disease burden has not been comprehensively evaluated. We introduce an approach to estimate the effect of genetic risk factors on disability-adjusted life years (DALYs; ‘lost healthy life years’). We use genetic information from 735,748 individuals and cons...

EpidemiologyGeneticsGenetics researchPublic healthRisk factors

10.1038/S41591-022-01957-2

ISSN:1078-8956

Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies

Zhang Jingning•Dutta Diptavo•Köttgen Anna•Tin Adrienne•Schlosser Pascal等 11 人

Nature Genetics

2022

•2022/5/2

•00 p.1-10

Improved understanding of genetic regulation of the proteome can facilitate identification of the causal mechanisms for complex traits. We analyzed data on 4,657 plasma proteins from 7,213 European American (EA) and 1,871 African American (AA) individuals from the Atherosclerosis Risk in Communities...

EpidemiologyGene regulation

10.1038/S41588-022-01051-W

ISSN:1061-4036

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

Pleiotropic and sex-specific genetic mechanisms of circulating metabolic markers

Dennis van der Meer•Zillur Rahman•Aigar Ottas•Pravesh Parekh•Gleda Kutrolli等 26 人

Nature Communications

2025

•2025/5/28

•Vol.16 No.1 p.1-12

Metabolites in plasma form biosignatures of a range of common complex human diseases. Discovering variants with pleiotropic effects across metabolites can reveal underlying biological mechanisms. We therefore performed uni- and multivariate genome-wide association studies (GWAS) on 249 circulating m...

Genetics researchGenome-wide association studiesMetabolomics

10.1038/S41467-025-60058-Z

ISSN:2041-1723

Protein-truncating variants in UQCRC1 are associated with Parkinson’s disease: evidence from half-million people

Xiaoxi Jing•Zongzhi Liu•Wenwen Li•Kaiyan Ma•Jiaxiang Zhang等 12 人

Npj Parkinson's Disease

2025

•2025/5/9

•Vol.11 No.1 p.1-5

Recent studies have suggested a potential but inconsistent link between UQCRC1 and Parkinson’s disease (PD). For the first time, we systematically investigated the association between non-synonymous variants in UQCRC1 and PD risk using data from the UK Biobank with half-million participants, which p...

Parkinson's diseaseRare variants

10.1038/S41531-025-00987-0

ISSN:2373-8057

Metabolomic and genomic prediction of common diseases in 700,217 participants in three national biobanks

Nature Communications

2024

•2024/11/21

•Vol.15 No.1 p.1-14

Identifying individuals at high risk of chronic diseases via easily measured biomarkers could enhance efforts to prevent avoidable illness and death. Using ’omic data can stratify risk for many diseases simultaneously from a single measurement that captures multiple molecular predictors of risk...

Predictive markersRisk factors

10.1038/S41467-024-54357-0

ISSN:2041-1723

Evidence of bidirectional relationship between type 2 diabetes and depression; a Mendelian randomization study

Renu Bala•Dale Handley•Alexandra Gillett•Harry Green•Jack Bowden等 9 人

Molecular Psychiatry

2025

•2025/7/1

•00 p.1-11

Major depressive disorder (MDD) and type 2 diabetes (T2D) represent two global health challenges with a high degree of co-occurrence. Here, we aim to investigate the causal relationship between MDD and T2D in diverse ancestries using Mendelian randomization (MR) in GWAS summary statistic and individ...

DepressionGenetics

10.1038/S41380-025-03083-0

ISSN:1359-4184

Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health

Yajie Zhao•Sam Lockhart•Jimmy Liu•Xihao Li•Adrian Cortes等 21 人

Nature Genetics

2025

•2025/10/10

•Vol.57 No.10 p.2436-2444

In addition to its coverage of the noncoding genome, whole-genome sequencing (WGS) may better capture the coding genome than exome sequencing. Here we sought to exploit this and identify new rare, protein-coding variants associated with metabolic health in WGS data (n = 708,956) from the UK Biobank ...

Genetics researchGenome-wide association studiesObesityType 2 diabetes

10.1038/S41588-025-02364-2

ISSN:1061-4036

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

Opposing brain signatures of sleep in task-based and resting-state conditions

Mohamed Abdelhack•Peter Zhukovsky•Milos Milic•Shreyas Harita•Michael Wainberg等 9 人

Nature Communications

2023

•2023/12/1

•Vol.14 No.1 p.1-14

Sleep and depression have a complex, bidirectional relationship, with sleep-associated alterations in brain dynamics and structure impacting a range of symptoms and cognitive abilities. Previous work describing these relationships has provided an incomplete picture by investigating only one or two t...

DepressionPerceptionSleep deprivation

10.1038/S41467-023-43737-7

ISSN:2041-1723

The role of Life’s Crucial 9 in cardiovascular disease incidence and dynamic transitions to dementia

Yanyu Zhang•Darui Gao•Jie Liang•Mengmeng Ji•Wenya Zhang等 8 人

Communications Medicine

2025

•2025/6/10

•Vol.5 No.1 p.1-9

Cardiovascular disease (CVD) often coexists with dementia as the contributor to disease burden in the aging population. Although the effects of several modifiable factors on the CVD and dementia risk have been increasingly recognized, their impacts on their dynamic transitions have not yet been expl...

Cardiovascular diseasesDementiaLifestyle modification

10.1038/S43856-025-00938-Z

ISSN:2730-664X

Early-life exposure to sugar rationing and long-term risk of depression and anxiety: a population-based natural experiment

Binyu Liu•Zhuoshuai Liang•Xiaoyang Li•Huizhen Jin•Ruofei Li等 16 人

Molecular Psychiatry

2026

•2026/7/23

•00 p.1-11

Early-life nutritional environments, particularly during the first 1000 days of life, may have long-term implications for mental health. We investigated the association between early-life exposure to UK sugar rationing, a population-wide policy implemented during and after World War II, and the risk...

DepressionPsychiatric disorders

10.1038/S41380-026-03776-0

ISSN:1359-4184

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

Anton Safonov•Tomoki T. Nomakuchi•Elizabeth Chao•Carrie Horton•Jill S. Dolinsky等 27 人

Nature Communications

2025

•2025/4/1

•Vol.16 No.1 p.1-14

Loss of function variants in the NF1 gene cause neurofibromatosis type 1, a genetic disorder characterized by complete penetrance, characteristic physical exam findings, and a substantially increased risk for malignancy. However, our understanding of the disorder is based on patients ascertained thr...

Breast cancerCancer geneticsClinical geneticsGenetic association studyMolecular medicine

10.1038/S41467-025-57077-1

ISSN:2041-1723

Daily steps are a predictor of, but perhaps not a risk factor for Parkinson’s disease: findings from the UK Biobank

Aidan Acquah•Andrew Creagh•Valentin Hamy•Alaina Shreves•Charilaos Zisou等 11 人

Npj Parkinson's Disease

2025

•2025/11/24

Previous studies link lower physical activity with incident Parkinson’s disease (PD) but rely on self-reported data and fail to address reverse causation. This study used accelerometer-derived daily step count, an objective measure of physical activity, to examine its association with incident PD in...

DiseasesHealth careMedical researchNeurologyNeuroscienceRisk factors

10.1038/S41531-025-01214-6

ISSN:2373-8057

A phenome-wide association and Mendelian randomization study for suicide attempt within UK Biobank

Meiyan Huang•Xiaoling Zhang•Xiumei Chen•Xinyue Zhang•Bingxin Zhao等 10 人

Molecular Psychiatry

2025

•2025/9/2

•00 p.1-10

Uncertainties persist in the neurological and behavioral risk factors for suicide attempt (SA) due to a lack of data covering multiple phenotypes. Here, the polygenic risk scores (PRSs) for SA samples within the UK Biobank (N = 40,369) were estimated using non-overlapping Psychiatric Genomics Consor...

GeneticsNeurosciencePsychiatric disordersPsychology

10.1038/S41380-025-03214-7

ISSN:1359-4184

Damaging mutations in liver X receptor-α are hepatotoxic and implicate cholesterol sensing in liver health

Sam M. Lockhart•Milan Muso•Ilona Zvetkova•Brian Y. H. Lam•Alessandra Ferrari等 42 人

Nature Metabolism

2024

•2024/9/25

•00 p.1-17

Liver X receptor-α (LXRα) regulates cellular cholesterol abundance and potently activates hepatic lipogenesis. Here we show that at least 1 in 450 people in the UK Biobank carry functionally impaired mutations in LXRα, which is associated with biochemical evidence of hepatic dysfunction. On a wester...

Genetics researchLiver fibrosisMetabolic syndrome

10.1038/S42255-024-01126-4

ISSN:2522-5812

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

Enhancing the Polygenic Score Catalog with tools for score calculation and ancestry normalization

Samuel A. Lambert•Benjamin Wingfield•Joel T. Gibson•Laurent Gil•Santhi Ramachandran等 16 人

Nature Genetics

2024

•2024/9/26

•00 p.1-6

Polygenic scores (PGSs) have transformed human genetic research and have numerous potential clinical applications. Here we present a series of recent enhancements to the PGS Catalog and highlight the PGS Catalog Calculator, an open-source, scalable and portable pipeline for reproducibly calculating ...

Genetics researchGenomicsSoftware

10.1038/S41588-024-01937-X

ISSN:1061-4036

Phenotypic screening and genetic insights for predicting major vascular-related diseases using retinal imaging

Menglin Lu•Yiheng Mao•Hui Zhu•Yesheng Xu•Yu-Feng Yao等 7 人

Npj Digital Medicine

2025

•2025/7/14

•Vol.8 No.1 p.1-16

Retinal photography is a valuable non-invasive tool for assessing vascular health, but genetic evidence linking retinal microcirculation to major vascular-related diseases (e.g., myocardial infarction [MI], stroke, and chronic kidney disease [CKD]) remains scarce. This study investigates their relat...

Cardiovascular diseasesComputational biology and bioinformaticsKidney diseases

10.1038/S41746-025-01850-5

ISSN:2398-6352

White matter microstructure differences between 15q11.2 copy number variation carriers and non-carriers in mid-to-late life

Max Korbmacher•Rune Boen•Ole A. Andreassen•Lars T. Westlye•Ida E. Sønderby等 6 人

Translational Psychiatry

2026

•2026/3/19

•Vol.16 No.1 p.1900

The 15q11.2 BP1-BP2 copy number variant (CNV) has been associated with neurodevelopmental and psychiatric conditions and brain grey matter structure, but its effects on white matter microstructure (WMM) in mid-to-late adulthood to assess long-term neurobiological effects remain unclear. Understandin...

GeneticsNeuroscience

10.1038/S41398-026-03962-2

ISSN:2158-3188

Sex-specific associations of intrapancreatic fat deposition with incident type 2 diabetes

Xuechen Wang•Yucheng Yang•Shumeng Han•Zijun Liu•Fan Ping等 9 人

Communications Medicine

2025

•2025/11/28

•Vol.5 No.1 p.5010

Intrapancreatic fat deposition (IPFD) has been linked to impaired β cell function and development of type 2 diabetes (T2D). It remains unclear whether IPFD is associated with incident T2D independent of visceral adiposity. Sex differences in the associations of IPFD with T2D are also unclear. We aim...

ObesityType 2 diabetes

10.1038/S43856-025-01221-X

ISSN:2730-664X

Accelerated brain ageing during the COVID-19 pandemic

Ali-Reza Mohammadi-Nejad•Martin Craig•Eleanor F. Cox•Xin Chen•R. Gisli Jenkins等 8 人

Nature Communications

2025

•2025/7/22

•Vol.16 No.1 p.1-13

The impact of SARS-CoV-2 and the COVID-19 pandemic on brain health is recognised, yet specific effects remain understudied. We investigate the pandemic’s impact on brain ageing using longitudinal neuroimaging data from the UK Biobank. Brain age prediction models are trained from hundreds of multi-mo...

Brain imagingViral infection

10.1038/S41467-025-61033-4

ISSN:2041-1723

Atlas of plasma NMR biomarkers for health and disease in 118,461 individuals from the UK Biobank

Julkunen Heli•Cichońska Anna•Tiainen Mika•Koskela Harri•Nybo Kristian等 16 人

Nature Communications

2023

•2023/2/3

•Vol.14 No.1 p.1-15

Blood lipids and metabolites are markers of current health and future disease risk. Here, we describe plasma nuclear magnetic resonance (NMR) biomarker data for 118,461 participants in the UK Biobank. The biomarkers cover 249 measures of lipoprotein lipids, fatty acids, and small molecules such as a...

Molecular medicinePredictive markersSolution-state NMR

10.1038/S41467-023-36231-7

ISSN:2041-1723

Brain asymmetries from mid- to late life and hemispheric brain age

Max Korbmacher•Dennis van der Meer•Dani Beck•Ann-Marie G. de Lange•Eli Eikefjord等 9 人

Nature Communications

2024

•2024/2/1

•Vol.15 No.1 p.1-14

The human brain demonstrates structural and functional asymmetries which have implications for ageing and mental and neurological disease development. We used a set of magnetic resonance imaging (MRI) metrics derived from structural and diffusion MRI data in N=48,040 UK Biobank participants to evalu...

BiomarkersBrainNeural ageing

10.1038/S41467-024-45282-3

ISSN:2041-1723

Rank concordance of polygenic indices

Muslimova Dilnoza•Dias Pereira Rita•von Hinke Stephanie•van Kippersluis Hans•Rietveld Cornelius A.等 6 人

Nature Human Behaviour

2023

•2023/3/13

•00 p.1-10

Polygenic indices (PGIs) are increasingly used to identify individuals at risk of developing disease and are advocated as screening tools for personalized medicine and education. Here we empirically assess rank concordance between PGIs created with different construction methods and discovery sample...

Behavioural geneticsPredictive markers

10.1038/S41562-023-01544-6

ISSN:2397-3374

Phenotypic and genetic associations of quantitative magnetic susceptibility in UK Biobank brain imaging

Wang Chaoyue•Martins-Bach Aurea B.•Alfaro-Almagro Fidel•Douaud Gwenaëlle•Klein Johannes C.等 12 人

Nature Neuroscience

2022

•2022/5/23

•00 p.1-14

A key aim in epidemiological neuroscience is identification of markers to assess brain health and monitor therapeutic interventions. Quantitative susceptibility mapping (QSM) is an emerging magnetic resonance imaging technique that measures tissue magnetic susceptibility and has been shown to detect...

BiomarkersGeneticsNeuroscienceResearch data

10.1038/S41593-022-01074-W

ISSN:1097-6256

UKB-MDRMF: a multi-disease risk and multimorbidity framework based on UK biobank data

Yukang Jiang•Bingxin Zhao•Xiaopu Wang•Borui Tang•Huiyang Peng等 13 人

Nature Communications

2025

•2025/4/22

•Vol.16 No.1 p.1-16

The rapid accumulation of biomedical cohort data presents opportunities to explore disease mechanisms, risk factors, and prognostic markers. However, current research often has a narrow focus, limiting the exploration of risk factors and inter-disease correlations. Additionally, fragmented processes...

EpidemiologyPopulation geneticsRisk factors

10.1038/S41467-025-58724-3

ISSN:2041-1723

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

Cross-ancestral GWAS identifies 29 variants across head and neck cancer subsites

Elmira Ebrahimi•Apiwat Sangphukieo•Hanla A. Park•Valerie Gaborieau•Aida Ferreiro-Iglesias等 53 人

Nature Communications

2025

•2025/10/2

•Vol.16 No.1 p.1-18

Head and neck squamous cell carcinoma (HNSCC) includes diverse cancers arising in the oral cavity, oropharynx, and larynx, with the main risk factors being environmental exposures such as tobacco, alcohol, and human papillomavirus (HPV) infection. The genetic factors contributing to susceptibility a...

Cancer geneticsHead and neck cancer

10.1038/S41467-025-63842-Z

ISSN:2041-1723

Genome-wide analysis of cardiac ventricular phenotypes reveals novel loci and therapeutic targets for heart failure

Hannah L. Nicholls•Jose D. Vargas•Mihir M. Sanghvi•Hyo-Suk Ahn•C. Anwar A. Chahal等 9 人

Nature Communications

2026

•2026/2/27

•Vol.17 No.1 p.32930

Left and right ventricular imaging measures are essential for heart failure diagnosis and prognostication, yet their genetic architecture remains underexplored. We conduct genome-wide association analyses of twenty left and right cardiovascular magnetic resonance phenotypes in 56,509 UK Biobank part...

Cardiovascular geneticsGenome informaticsGenome-wide association studies

10.1038/S41467-026-69982-0

ISSN:2041-1723

Associations between body composition, fat distribution and metabolic consequences of excess adiposity with severe COVID-19 outcomes: observational study and Mendelian randomisation analysis

Gao Min•Wang Qin•Piernas Carmen•Astbury Nerys M.•Jebb Susan A.等 7 人

International Journal Of Obesity

2022

•2022/1/14

•00 p.1-8

Higher body mass index (BMI) and metabolic consequences of excess weight are associated with increased risk of severe COVID-19, though their mediating pathway is unclear. A prospective cohort study included 435,504 UK Biobank participants. A two-sample Mendelian randomisation (MR) study used the COV...

GeneticsMicrobiology

10.1038/S41366-021-01054-3

ISSN:0307-0565

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

Whole-genome sequencing of 490,640 UK Biobank participants

Nature

2025

•2025/8/6

•00 p.1-10

Whole-genome sequencing provides an unbiased and complete view of the human genome and enables the discovery of genetic variation without the technical limitations of other genotyping technologies. Here we report on whole-genome sequencing of 490,640 UK Biobank participants, building on previous gen...

Genetics researchGenome-wide association studiesNext-generation sequencingRare variants

10.1038/S41586-025-09272-9

ISSN:0028-0836

Association between mental health and MASLD molecular insights through metabolomics

Dashuai Yang•Nan Zhao•Wei Zhang•Shouxin Peng•Xian Qin等 6 人

Communications Medicine

2025

•2025/12/27

Mental health disorders and metabolic dysfunction-associated steatotic liver disease (MASLD) represent substantial global public health challenges. The precise relationship between mental health parameters and MASLD development remains poorly characterized. Using data from the UK Biobank cohort, we ...

Diagnostic markersMetabolic disorders

10.1038/S43856-025-01317-4

ISSN:2730-664X

Gene-based burden tests of rare germline variants identify six cancer susceptibility genes

Erna V. Ivarsdottir•Julius Gudmundsson•Vinicius Tragante•Gardar Sveinbjornsson•Snaedis Kristmundsdottir等 57 人

Nature Genetics

2024

•2024/10/29

•00 p.1-12

Discovery of cancer risk variants in the sequence of the germline genome can shed light on carcinogenesis. Here we describe gene burden association analyses, aggregating rare missense and loss of function variants, at 22 cancer sites, including 130,991 cancer cases and 733,486 controls from Iceland,...

CancerGenetic association study

10.1038/S41588-024-01966-6

ISSN:1061-4036

The neuroimaging correlates of depression established across six large-scale population datasets

Kassandra Miyoko Hamilton•Xiaoke Luo•Ty Easley•Fyzeen Ahmad•Thomas Guo等 17 人

Nature Mental Health

2026

•2026/7/13

•00 p.1-13

Depression has been linked to reduced size of subcortical regions and abnormal functional connectivity in frontal and default mode networks. However, recent meta-analyses have failed to identify significant converging correlates of depression across the literature such that a conclusive mapping of t...

DepressionEmotion

10.1038/S44220-026-00680-Y

ISSN:2731-6076

Multivariate genetic analysis of personality and cognitive traits reveals abundant pleiotropy

Guy Hindley•Alexey A. Shadrin•Dennis van der Meer•Nadine Parker•Weiqiu Cheng等 23 人

Nature Human Behaviour

2023

•2023/6/26

•00 p.1-17

Personality and cognitive function are heritable mental traits whose genetic foundations may be distributed across interconnected brain functions. Previous studies have typically treated these complex mental traits as distinct constructs. We applied the ‘pleiotropy-informed’ multivariate omnibus sta...

Genetic variationHuman behaviour

10.1038/S41562-023-01630-9

ISSN:2397-3374

Metabolomic signatures of brain aging: A multimodal and genetic study

Zhirong Li•Yating Miao•Xinyao Zhang•Yanan Ma•Lina Jin

Molecular Psychiatry

2026

•2026/6/24

•00 p.1-12

Accelerated brain aging is increasingly recognized as a transdiagnostic risk factor for neuropsychiatric and neurodegenerative disorders, yet its metabolic underpinnings remain poorly understood. Here we integrated multimodal neuroimaging (MRI), plasma metabolomics, and genomic data from the UK Biob...

BiomarkersNeuroscience

10.1038/S41380-026-03703-3

ISSN:1359-4184

A Bayesian framework for longitudinal EHR and genetic discovery

Sarah M. Urbut•Yi Ding•Tetsushi Nakao•Satoshi Koyama•Anika Misra等 13 人

Nature

2026

•2026/7/15

•00 p.1-12

Electronic health records (EHRs) provide rich longitudinal disease histories, but existing methods for analysing these data typically treat diseases in isolation1 and rarely integrate germline genetics. Here we present ALADYNOULLI, a Bayesian generative framework that jointly models longitudina...

Genetic markersGenome-wide association studiesPredictive medicineRisk factorsStatistics

10.1038/S41586-026-10780-5

ISSN:0028-0836

Genetic analysis of circulating metabolic traits in 619,372 individuals

Ralf Tambets•Mihkel Jesse•Jaanika Kronberg•Adriaan van der Graaf•Erik Abner等 18 人

Nature

2026

•2026/5/20

•00 p.1-8

Interpreting the association of genetic variants with complex traits can be improved by gaining a greater understanding of the molecular consequences of these variants. Although genome-wide association studies (GWAS) for complex diseases routinely profile over one million individuals1–5, studie...

Genome-wide association studiesMetabolomicsQuantitative trait lociRisk factors

10.1038/S41586-026-10532-5

ISSN:0028-0836

Applying a genetic risk score for prostate cancer to men with lower urinary tract symptoms in primary care to predict prostate cancer diagnosis: a cohort study in the UK Biobank

Green Harry D.•Merriel Samuel W. D.•Oram Richard A.•Ruth Katherine S.•Tyrrell Jessica等 9 人

British Journal Of Cancer

2022

•2022/8/18

•Vol.127 No.8 p.1534-1539

Prostate cancer is highly heritable, with >250 common variants associated in genome-wide association studies. It commonly presents with non-specific lower urinary tract symptoms that are frequently associated with benign conditions. Cohort study using UK Biobank data linked to primary care record...

Cancer genomicsDiagnosisDiagnostic markersProstate cancerRisk factors

10.1038/S41416-022-01918-Z

ISSN:0007-0920

Clinical utility of polygenic scores for cardiometabolic disease in Arabs

Injeong Shim•Hiroyuki Kuwahara•NingNing Chen•Mais O. Hashem•Lama AlAbdi等 13 人

Nature Communications

2023

•2023/10/18

•Vol.14 No.1 p.1-11

Arabs account for 5% of the world population and have a high burden of cardiometabolic disease, yet clinical utility of polygenic risk prediction in Arabs remains understudied. Among 5399 Arab patients, we optimize polygenic scores for 10 cardiometabolic traits, achieving a performance that is bette...

Genetic variationPersonalized medicinePredictive markersRisk factors

10.1038/S41467-023-41985-1

ISSN:2041-1723

Population attributable fractions of a wide range of peripheral diseases for the burden of dementia

Zhenhong Deng•Yuxin Yang•Queran Lin•Songhua Xiao•You Zuo等 14 人

Nature Human Behaviour

2026

•2026/1/20

•00 p.1-19

Growing evidence suggests that peripheral diseases serve as risk factors for dementia, but the population-level burden of dementia associated with various peripheral diseases has remained unknown. Here, by conducting a systematic review and Bayesian meta-analyses to estimate the relative risks of 26...

Alzheimer's diseaseEpidemiologyGeriatricsPublic healthRisk factors

10.1038/S41562-025-02392-2

ISSN:2397-3374

Discovery of obesity genes through cross-ancestry analysis

Deepro Banerjee•Santhosh Girirajan

Nature Communications

2025

•2025/10/30

•Vol.16 No.1 p.1-11

Gene discoveries in obesity have largely relied on homogeneous populations, limiting their generalizability across ancestries. Here, we conduct a gene-based rare variant association study of BMI on 839,110 individuals from six ancestries across two population-scale biobanks. A cross-ancestry meta-an...

Genome-wide association studiesRisk factors

10.1038/S41467-025-64933-7

ISSN:2041-1723

Plasma metabolite profile for primary open-angle glaucoma in three US cohorts and the UK Biobank

Oana A. Zeleznik•Jae H. Kang•Jessica Lasky-Su•A. Heather Eliassen•Lisa Frueh等 12 人

Nature Communications

2023

•2023/5/19

•Vol.14 No.1 p.1-11

Glaucoma is a progressive optic neuropathy and a leading cause of irreversible blindness worldwide. Primary open-angle glaucoma is the most common form, and yet the etiology of this multifactorial disease is poorly understood. We aimed to identify plasma metabolites associated with the risk of devel...

Optic nerve diseasesPredictive markers

10.1038/S41467-023-38466-W

ISSN:2041-1723

Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy

Sean L. Zheng•Albert Henry•Douglas Cannie•Michael Lee•David Miller等 106 人

Nature Genetics

2024

•2024/11/21

•00 p.1-13

Dilated cardiomyopathy (DCM) is a leading cause of heart failure and cardiac transplantation. We report a genome-wide association study and multi-trait analysis of DCM (14,256 cases) and three left ventricular traits (36,203 UK Biobank participants). We identified 80 genomic risk loci and prioritize...

CardiomyopathiesGenome-wide association studies

10.1038/S41588-024-01952-Y

ISSN:1061-4036

An integrated germline and somatic genomic model for coronary artery disease

Xiong Yang•Min Seo Kim•Xinyu Zhu•Md Mesbah Uddin•Tetsushi Nakao等 52 人

Nature Communications

2026

•2026/3/26

Multiple germline and somatic genomic factors are associated with risk of coronary artery disease, but there is no single measure of risk that integrates all information from a DNA sample. To address this gap, we develop an integrated genomic model that includes six germline and somatic genetic driv...

Cardiovascular geneticsComputational modelsGenetic predisposition to disease

10.1038/S41467-026-70379-2

ISSN:2041-1723

Integrative proteomic analyses across common cardiac diseases yield mechanistic insights and enhanced prediction

Art Schuermans•Ashley B. Pournamdari•Jiwoo Lee•Rohan Bhukar•Shriienidhie Ganesh等 15 人

Nature Cardiovascular Research

2024

•2024/11/21

•00 p.1-15

Cardiac diseases represent common highly morbid conditions for which molecular mechanisms remain incompletely understood. Here we report the analysis of 1,459 protein measurements in 44,313 UK Biobank participants to characterize the circulating proteome associated with incident coronary artery dise...

Cardiovascular diseasesMolecular medicineProteomics

10.1038/S44161-024-00567-0

ISSN:2731-0590

Multi-ancestry meta-analysis of keloids uncovers novel susceptibility loci in diverse populations

Catherine A. Greene•Gabrielle Hampton•James Jaworski•Megan M. Shuey•Atlas Khan等 11 人

Nature Communications

2025

•2025/8/20

•Vol.16 No.1 p.1-13

Keloids are raised scars that grow beyond original wound boundaries, resulting in pain and disfigurement. Reasons for keloid development are not well-understood, and current treatment options are limited. Keloids are more likely to occur in darker-skinned individuals of African and Asian descent tha...

Gene expressionGenome-wide association studiesSkin diseases

10.1038/S41467-025-62945-X

ISSN:2041-1723

Ancestry-specific polygenic risk scores are risk enhancers for clinical cardiovascular disease assessments

George B. Busby•Scott Kulm•Alessandro Bolli•Jen Kintzle•Paolo Di Domenico等 6 人

Nature Communications

2023

•2023/11/4

•Vol.14 No.1 p.1-11

Clinical implementation of new prediction models requires evaluation of their utility in a broad range of intended use populations. Here we develop and validate ancestry-specific Polygenic Risk Scores (PRSs) for Coronary Artery Disease (CAD) using 29,389 individuals from diverse cohorts and genetic ...

CardiologyGenetic variationMedical genomics

10.1038/S41467-023-42897-W

ISSN:2041-1723

A multimodal vision knowledge graph of cardiovascular disease

Khaled Rjoob•Kathryn A. McGurk•Sean L. Zheng•Lara Curran•Mahmoud Ibrahim等 18 人

Nature Cardiovascular Research

2025

•2025/12/29

•Vol.5 No.1 p.18-33

Understanding gene–disease associations is important for uncovering pathological mechanisms and identifying potential therapeutic targets. Knowledge graphs can represent and integrate data from multiple biomedical sources, but lack individual-level information on target organ structure and function....

Cardiovascular diseasesDrug discovery

10.1038/S44161-025-00757-4

ISSN:2731-0590

Oligoprotein type I interferon signatures, but not TREX1 variants, increase risk of systemic lupus erythematosus in UK Biobank

Bastien Rioux•Sarah McGlasson•Deborah Forbes•Katy R. Reid•Anna Klingseisen等 10 人

Nature Communications

2026

•2026/1/27

•Vol.17 No.1 p.10730

The 3′ − 5′ DNA exonuclease, TREX1, is a negative regulator of the type I interferon response, while TREX1 variants are considered to confer risk for non-monogenic systemic lupus erythematosus (SLE). Here we analyse TREX1 sequences in 469,229 UK Biobank participants together with multi-omics data fr...

Disease geneticsInterferonsPredictive markersSystemic lupus erythematosus

10.1038/S41467-025-67832-Z

ISSN:2041-1723

Identifying behaviour-related and physiological risk factors for suicide attempts in the UK Biobank

Bei Zhang•Jia You•Edmund T. Rolls•Xiang Wang•Jujiao Kang等 16 人

Nature Human Behaviour

2024

•2024/7/2

•00 p.1-14

Suicide is a global public health challenge, yet considerable uncertainty remains regarding the associations of both behaviour-related and physiological factors with suicide attempts (SA). Here we first estimated polygenic risk scores (PRS) for SA in 334,706 UK Biobank participants and conducted phe...

Human behaviourPsychiatric disordersRisk factors

10.1038/S41562-024-01903-X

ISSN:2397-3374

Identifying potential causal effects of Parkinson’s disease: A polygenic risk score-based phenome-wide association and mendelian randomization study in UK Biobank

Changhe Shi•Dongrui Ma•Mengjie Li•Zhiyun Wang•Chenwei Hao等 18 人

Npj Parkinson's Disease

2024

•2024/9/6

•Vol.10 No.1 p.1-8

There is considerable uncertainty regarding the associations between various risk factors and Parkinson’s Disease (PD). This study systematically screened and validated a wide range of potential PD risk factors from 502,364 participants in the UK Biobank. Baseline data for 1851 factors across 11 cat...

Parkinson's diseaseRisk factors

10.1038/S41531-024-00780-5

ISSN:2373-8057

Large-scale whole-exome sequencing analyses identified protein-coding variants associated with immune-mediated diseases in 350,770 adults

Liu Yang•Ya-Nan Ou•Bang-Sheng Wu•Wei-Shi Liu•Yue-Ting Deng等 15 人

Nature Communications

2024

•2024/7/15

•Vol.15 No.1 p.1-15

The genetic contribution of protein-coding variants to immune-mediated diseases (IMDs) remains underexplored. Through whole exome sequencing of 40 IMDs in 350,770 UK Biobank participants, we identified 162 unique genes in 35 IMDs, among which 124 were novel genes. Several genes, including FLG which ...

Autoimmune diseasesGenetic association studyImmunology

10.1038/S41467-024-49782-0

ISSN:2041-1723

Parent-of-origin effects on complex traits in up to 236,781 individuals

Robin J. Hofmeister•Théo Cavinato•Roya Karimi•Adriaan van der Graaf•Fanny-Dhelia Pajuste等 14 人

Nature

2025

•2025/8/6

•00 p.1-10

Parent-of-origin effects (POEs) occur when the effect of a genetic variant depends on its parental origin1. Traditionally linked to genomic imprinting, POEs are believed to occur due to parental conflict over resource allocation to offspring, resulting in opposing parental influences2. Despite their...

Genome-wide association studiesHaplotypesImprintingStatistical methods

10.1038/S41586-025-09357-5

ISSN:0028-0836

Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine

Andrew M. Glazer•Daniel R. Tabet•Victoria N. Parikh•Brett M. Kroncke•Atina G. Cote等 16 人

Nature Reviews Cardiology

2025

•2025/9/1

•00 p.1-15

Cardiovascular diseases are leading global causes of death and disability, often presenting as interrelated phenotypes of atherosclerotic vascular disease, heart failure and arrhythmias. Cardiovascular diseases arise from interactions between environmental factors and predisposing genotypes and incl...

Cardiovascular diseasesDisease genetics

10.1038/S41569-025-01201-7

ISSN:1759-5002

Complex genetic effects linked to plasma protein abundance in the UK Biobank

Arnor I. Sigurdsson•Justus F. Gräf•Zhiyu Yang•Kirstine Ravn•Jonas Meisner等 17 人

Nature Communications

2025

•2025/12/14

Understanding genetic associations of proteins is important for studying the molecular effect of genetic variation. A key component of this is to understand the role of complex genetic effects such as dominance and epistasis that are associated with plasma proteins. Therefore, we develop EIR-auto-GP...

BiomarkersGenome informaticsMachine learningProteome informatics

10.1038/S41467-025-67235-0

ISSN:2041-1723

BMI-adjusted adipose tissue volumes exhibit depot-specific and divergent associations with cardiometabolic diseases

Agrawal Saaket•Klarqvist Marcus D. R.•Diamant Nathaniel•Stanley Takara L.•Ellinor Patrick T.等 12 人

Nature Communications

2023

•2023/1/17

•Vol.14 No.1 p.1-10

For any given body mass index (BMI), individuals vary substantially in fat distribution, and this variation may have important implications for cardiometabolic risk. Here, we study disease associations with BMI-independent variation in visceral (VAT), abdominal subcutaneous (ASAT), and gluteofemoral...

Cardiovascular diseasesDiabetesMachine learningObesity

10.1038/S41467-022-35704-5

ISSN:2041-1723

Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

Yajie Zhao•Maria Chukanova•Katherine A. Kentistou•Zammy Fairhurst-Hunter•Anna Maria Siegert等 34 人

Nature Genetics

2024

•2024/4/4

•00 p.1-6

Obesity is a major risk factor for many common diseases and has a substantial heritable component. To identify new genetic determinants, we performed exome-sequence analyses for adult body mass index (BMI) in up to 587,027 individuals. We identified rare loss-of-function variants in two genes (BSN a...

Genetics researchGenome-wide association studiesObesity

10.1038/S41588-024-01694-X

ISSN:1061-4036

A cross population study of retinal aging biomarkers with longitudinal pre-training and label distribution learning

Zhen Yu•Ruiye Chen•Peng Gui•Wei Wang•Imran Razzak等 17 人

Npj Digital Medicine

2025

•2025/6/10

•Vol.8 No.1 p.1-14

Retinal age has emerged as a promising biomarker of aging, offering a non-invasive and accessible assessment tool. We developed a deep learning model to estimate retinal age with enhanced accuracy, leveraging retinal images from diverse populations. Our approach integrates self-supervised learning t...

Predictive markersRisk factors

10.1038/S41746-025-01751-7

ISSN:2398-6352

Discerning asthma endotypes through comorbidity mapping

Jia Gengjie•Zhong Xue•Im Hae Kyung•Schoettler Nathan•Pividori Milton等 19 人

Nature Communications

2022

•2022/11/7

•Vol.13 No.1 p.1-19

Asthma is a heterogeneous, complex syndrome, and identifying asthma endotypes has been challenging. We hypothesize that distinct endotypes of asthma arise in disparate genetic variation and life-time environmental exposure backgrounds, and that disease comorbidity patterns serve as a surrogate for s...

AsthmaClassification and taxonomy

10.1038/S41467-022-33628-8

ISSN:2041-1723

Assessing the contribution of genetic nurture to refractive error

Guggenheim Jeremy A.•Clark Rosie•Zayats Tetyana•Williams Cathy

European Journal Of Human Genetics

2022

•2022/5/27

•00 p.1-7

Parents pass on both their genes and environment to offspring, prompting debate about the relative importance of nature versus nurture in the inheritance of complex traits. Advances in molecular genetics now make it possible to quantify an individual’s genetic predisposition to a trait via his or he...

DiseasesRisk factors

10.1038/S41431-022-01126-6

ISSN:1018-4813

The brain structure, inflammatory, and genetic mechanisms mediate the association between physical frailty and depression

Rongtao Jiang•Stephanie Noble•Matthew Rosenblatt•Wei Dai•Jean Ye等 10 人

Nature Communications

2024

•2024/5/23

•Vol.15 No.1 p.1-11

Cross-sectional studies have demonstrated strong associations between physical frailty and depression. However, the evidence from prospective studies is limited. Here, we analyze data of 352,277 participants from UK Biobank with 12.25-year follow-up. Compared with non-frail individuals, pre-frail an...

DepressionNeural ageingPredictive markers

10.1038/S41467-024-48827-8

ISSN:2041-1723

Interpretable GWAS by linking clinical phenotypes to quantifiable immune repertoire components

Yuhao Tan•Lida Wang•Hongyi Zhang•Mingyao Pan•Dajiang J. Liu等 7 人

Communications Biology

2024

•2024/10/20

•Vol.7 No.1 p.1-11

Bridging the gap between genotype and phenotype in GWAS studies is challenging. A multitude of genetic variants have been associated with immune-related diseases, including cancer, yet the interpretability of most variants remains low. Here, we investigate the quantitative components in the T cell r...

Computational modelsGenome-wide association studiesImmunogenetics

10.1038/S42003-024-07010-X

ISSN:2399-3642

Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

Asmundur Oddsson•Patrick Sulem•Gardar Sveinbjornsson•Gudny A. Arnadottir•Valgerdur Steinthorsdottir等 75 人

Nature Communications

2023

•2023/6/10

•Vol.14 No.1 p.1-15

Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygosity among 1.52 million individuals from six European popula...

DevelopmentDisease geneticsGenetic predisposition to diseaseGenetics research

10.1038/S41467-023-38951-2

ISSN:2041-1723

Two separate, large cohorts reveal potential modifiers of age-associated variation in visual reaction time performance

J. S. Talboom•M. D. De Both•M. A. Naymik•A. M. Schmidt•C. R. Lewis等 18 人

Npj Aging And Mechanisms Of Disease

2021

•2021/7/1

•Vol.7 No.1 p.1-18

To identify potential factors influencing age-related cognitive decline and disease, we created MindCrowd. MindCrowd is a cross-sectional web-based assessment of simple visual (sv) reaction time (RT) and paired-associate learning (PAL). svRT and PAL results were combined with 22 survey questions. An...

Alzheimer's diseaseRisk factors

10.1038/S41514-021-00067-6

ISSN:2056-3973

Large language model powered knowledge graph construction for mental health exploration

Shan Gao•Kaixian Yu•Yue Yang•Sheng Yu•Chenglong Shi等 8 人

Nature Communications

2025

•2025/8/13

•Vol.16 No.1 p.1-16

Mental health is a major global concern, yet findings remain fragmented across studies and databases, hindering integrative understanding and clinical translation. To address this gap, we present the Mental Disorders Knowledge Graph (MDKG)—a large-scale, contextualized knowledge graph built using la...

Data integrationData miningData processingDatabasesPsychiatric disorders

10.1038/S41467-025-62781-Z

ISSN:2041-1723

Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan

Hung-Lin Chen•Hsiu-Yin Chiang•David Ray Chang•Chi-Fung Cheng•Charles C. N. Wang等 20 人

Nature Communications

2024

•2024/10/29

•Vol.15 No.1 p.1-16

Current genome-wide association studies (GWAS) for kidney function lack ancestral diversity, limiting the applicability to broader populations. The East-Asian population is especially under-represented, despite having the highest global burden of end-stage kidney disease. We conducted a meta-analysi...

End-stage renal diseaseGenome-wide association studies

10.1038/S41467-024-53516-7

ISSN:2041-1723

Germline modifiers of the tumor immune microenvironment implicate drivers of cancer risk and immunotherapy response

Meghana Pagadala•Timothy J. Sears•Victoria H. Wu•Eva Pérez-Guijarro•Hyo Kim等 29 人

Nature Communications

2023

•2023/5/12

•Vol.14 No.1 p.1-22

With the continued promise of immunotherapy for treating cancer, understanding how host genetics contributes to the tumor immune microenvironment (TIME) is essential to tailoring cancer screening and treatment strategies. Here, we study 1084 eQTLs affecting the TIME found through analysis of The Can...

Cancer geneticsMolecular medicineRisk factors

10.1038/S41467-023-38271-5

ISSN:2041-1723

Regional gene expression signatures are associated with sex-specific functional connectivity changes in depression

Talishinsky Aleksandr•Downar Jonathan•Vértes Petra E.•Seidlitz Jakob•Dunlop Katharine等 12 人

Nature Communications

2022

•2022/9/28

•Vol.13 No.1 p.1-20

The neural substrates of depression may differ in men and women, but the underlying mechanisms are incompletely understood. Here, we show that depression is associated with sex-specific patterns of abnormal functional connectivity in the default mode network and in five regions of interest with sexu...

Depression

10.1038/S41467-022-32617-1

ISSN:2041-1723

Plasma proteomics of sleep traits reveals systemic immune-metabolic pathways and genetically prioritized proteins

Han Chen•Xuemei Wang•Wei Chen•Chenjie Xu•Xiao Tan等 6 人

Molecular Psychiatry

2026

•2026/6/11

•00 p.1-17

The plasma proteomic signatures of sleep disturbance remain poorly characterized. Using data from 43,709 predominantly European-ancestry, middle-aged and older UK Biobank participants, we depict a large-scale atlas of plasma proteomic signatures of seven self-reported sleep traits (sleep duration, c...

Diagnostic markersMolecular biology

10.1038/S41380-026-03678-1

ISSN:1359-4184

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

The influence of HLA genetic variation on plasma protein expression

Chirag Krishna•Joshua Chiou•Saori Sakaue•Joyce B. Kang•Stephen M. Christensen等 12 人

Nature Communications

2024

•2024/7/31

•Vol.15 No.1 p.1-15

Genetic variation in the human leukocyte antigen (HLA) loci is associated with risk of immune-mediated diseases, but the molecular effects of HLA polymorphism are unclear. Here we examined the effects of HLA genetic variation on the expression of 2940 plasma proteins across 45,330 Europeans in the U...

ImmunogeneticsProteomicsQuantitative trait loci

10.1038/S41467-024-50583-8

ISSN:2041-1723

Meta-prediction of coronary artery disease risk

Shang-Fu Chen•Sang Eun Lee•Hossein Javedani Sadaei•Jun-Bean Park•Ahmed Khattab等 10 人

Nature Medicine

2025

•2025/4/16

•00 p.1-12

Coronary artery disease (CAD) is a leading cause of morbidity and mortality worldwide, and accurately predicting individual risk is critical for prevention. Here we aimed to integrate unmodifiable risk factors, such as age and genetics, with modifiable risk factors, such as clinical and biometric me...

Cardiovascular diseasesGenetics researchMachine learningPredictive medicineTranslational research

10.1038/S41591-025-03648-0

ISSN:1078-8956

MIXPRS enables multi-population and multi-method polygenic risk scores using summary statistics

Leqi Xu•Yikai Dong•Xiaowei Zeng•Zeyu Bian•Geyu Zhou等 7 人

Nature Genetics

2026

•2026/6/9

•00 p.1-12

Many multi-population polygenic risk score (PRS) methods have been proposed to improve prediction in underrepresented populations; however, no single method performs best across all scenarios. Although integrating PRSs across multiple methods and populations may improve prediction, this approach is ...

GeneticsPopulation genetics

10.1038/S41588-026-02637-4

ISSN:1061-4036

Plasma proteomics and incident coronary heart disease

Matthew P. Huber•Jennifer A. Brody•Colleen M. Sitlani•Thomas R. Austin•Usman A. Tahir等 17 人

Communications Medicine

2026

•2026/1/10

•Vol.6 No.1 p.980

Systematic profiling of plasma proteins in population studies offers a complementary approach to discovery of novel risk factors and may provide new insights into the causes of coronary heart disease. To explore relationships between the circulating proteome and coronary heart disease (CHD), we eval...

Cardiovascular diseasesGenomicsProteomics

10.1038/S43856-025-01363-Y

ISSN:2730-664X

Dissecting the genetic and proteomic risk factors for delirium

Vasilis Raptis•Youngjune Bhak•Timothy I. Cannings•Alasdair M. J. MacLullich•Albert Tenesa

Nature Aging

2025

•2025/11/24

•00 p.1-17

Delirium is an acute change in cognition, common in hospitalized older adults, and associated with high healthcare and human cost; however, delirium’s genetic and proteomic background remains poorly understood. Here we conducted a genetic meta-analysis on delirium using multi-ancestry data from the ...

AgeingGenome-wide association studiesNeurological disordersProteomics

10.1038/S43587-025-01018-6

ISSN:2662-8465

Data-driven identification of predictive risk biomarkers for subgroups of osteoarthritis using interpretable machine learning

Rikke Linnemann Nielsen•Thomas Monfeuga•Robert R. Kitchen•Line Egerod•Luis G. Leal等 14 人

Nature Communications

2024

•2024/4/1

•Vol.15 No.1 p.1-17

Osteoarthritis (OA) is increasing in prevalence and has a severe impact on patients’ lives. However, our understanding of biomarkers driving OA risk remains limited. We developed a model predicting the five-year risk of OA diagnosis, integrating retrospective clinical, lifestyle and biomarker data f...

Machine learningPredictive medicineRisk factors

10.1038/S41467-024-46663-4

ISSN:2041-1723

Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis

Pavel Loginovic•Feiyi Wang•Jiang Li•Lauric Ferrat•Uyenlinh L. Mirshahi等 15 人

Nature Communications

2024

•2024/2/28

•Vol.15 No.1 p.1-13

Optic neuritis (ON) is associated with numerous immune-mediated inflammatory diseases, but 50% patients are ultimately diagnosed with multiple sclerosis (MS). Differentiating MS-ON from non-MS-ON acutely is challenging but important; non-MS ON often requires urgent immunosuppression to preserve visi...

Genetics researchMultiple sclerosisOptic nerve diseasesTranslational research

10.1038/S41467-024-44917-9

ISSN:2041-1723

Healthy lifestyle reduces cardiovascular risk in women with genetic predisposition to hypertensive disorders of pregnancy

Sang‑Hyuk Jung•Haemin Kim•Young Mi Jung•Manu Shivakumar•Brenda Xiao等 14 人

Nature Communications

2025

•2025/2/8

•Vol.16 No.1 p.1-11

The genetic risk for hypertensive disorders of pregnancy is linked with the development of atherosclerotic cardiovascular disease. However, the effects of lifestyle and metabolic syndrome on atherosclerotic cardiovascular disease have not been evaluated. Here, we assess the long-term association bet...

AtherosclerosisPopulation geneticsPre-eclampsia

10.1038/S41467-025-56107-2

ISSN:2041-1723

Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities

Douglas P. Loesch•Manik Garg•Dorota Matelska•Dimitrios Vitsios•Xiao Jiang等 21 人

Nature Communications

2025

•2025/3/3

•Vol.16 No.1 p.1-16

Genomics can provide insight into the etiology of type 2 diabetes and its comorbidities, but assigning functionality to non-coding variants remains challenging. Polygenic scores, which aggregate variant effects, can uncover mechanisms when paired with molecular data. Here, we test polygenic scores f...

Personalized medicineType 2 diabetes

10.1038/S41467-025-56695-Z

ISSN:2041-1723

Quality control and removal of technical variation of NMR metabolic biomarker data in ~120,000 UK Biobank participants

Ritchie Scott C.•Surendran Praveen•Karthikeyan Savita•Lambert Samuel A.•Bolton Thomas等 10 人

Scientific Data

2023

•2023/1/31

•Vol.10 No.1 p.1-15

Metabolic biomarker data quantified by nuclear magnetic resonance (NMR) spectroscopy in approximately 121,000 UK Biobank participants has recently been released as a community resource, comprising absolute concentrations and ratios of 249 circulating metabolites, lipids, and lipoprotein sub-fraction...

BiomarkersMolecular biology

10.1038/S41597-023-01949-Y

ISSN:2052-4463