UK Biobank has created the most accessible, in-depth, adaptable biomedical database in the world
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UK Biobank

数据描述

UK Biobank has created the most accessible, in-depth, adaptable biomedical database in the world

The UK Biobank dataset is a comprehensive biomedical database designed for international researchers to advance health-related studies. It provides access to in-depth genetic, health, and lifestyle data from hundreds of thousands of participants, enabling research into diseases, genetics, and public health outcomes. The database is adaptable and accessible to bona fide researchers worldwide, excluding insurance companies, supporting diverse applications like disease prediction, treatment development, and population health analysis. Researchers must register through the Access Management System (AMS) with required documentation, including a CV and institutional details, before accessing the data. UK Biobank's mission is to facilitate cutting-edge research aiming to improve human health globally by offering one of the most extensive and versatile biomedical resources available.

www.ukbiobank.ac.uk
IP: 51.140.85.106
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相关论文

181

Massively parallel quantification of mutational impact on IAPP amyloid formation

Marta BadiaCristina BatlleBenedetta Bolognesi
Nature Communications
2026
2026/3/17
0
Amyloid fibrils formed by the islet amyloid polypeptide cause pancreatic beta-cell damage, resulting in reduced insulin secretion and type 2 diabetes. Changes in the amino acid sequence of this peptide can influence its aggregation rate, and animals expressing variants that do not form amyloids do n...
DiabetesIntrinsically disordered proteinsMutagenesis
10.1038/S41467-026-70611-Z
ISSN:2041-1723

Metabolomic characterization of frailty identifies subtype-specific management strategies

Lushan XiaoQijie DengJiaren WangShengxing LiangRuining Li13
Npj Digital Medicine
2025
2025/12/5
Vol.8 No.1 p.7460
The clinical application of the frailty phenotype and frailty index still has some limitations, and whether the classification of frailty based on metabolites is beneficial to the management of the frailty population remains unclear. This study analyzed 160,407 UK Biobank participants to define frai...
BiomarkersDiseasesMedical researchRisk factors
10.1038/S41746-025-02075-2
ISSN:2398-6352

Predicting dementia in people with Parkinson’s disease

Mohamed AboragehTom HähnelPatricia Martins CondeJochen KluckenHolger Fröhlich
Npj Parkinson's Disease
2025
2025/5/13
Vol.11 No.1 p.1-10
Parkinson’s disease (PD) exhibits a variety of symptoms, with approximately 25% of patients experiencing mild cognitive impairment and 45% developing dementia within ten years of diagnosis. Predicting this progression and identifying its causes remains challenging. Our study utilizes machine learnin...
Computational biology and bioinformaticsDementiaGenotypeParkinson's diseaseRisk factors
10.1038/S41531-025-00983-4
ISSN:2373-8057

Plasma proteomic signatures of cellular aging predict human disease

Daisy Yi DingVeronica Augustina BotKenneth L. ChenJames W. GrovesRóbert Pálovics14
Nature Medicine
2026
2026/6/15
Vol.32 No.6 p.2060-2072
Aging is asynchronous across cells and organs. Here we tested whether plasma proteomics can be used to analyze cell type-specific aging. From analyses of over 7,000 plasma proteins measured in 60,542 individuals, we developed machine learning models to estimate the biological age of over 40 cell typ...
Alzheimer's diseaseAmyotrophic lateral sclerosisNeurodegenerationPredictive markersPrognostic markers
10.1038/S41591-026-04446-Y
ISSN:1078-8956

Analysis of rare coding variants in schizophrenia-associated genes and generalised cognition in the UK Biobank

Eilidh FennerPeter HolmansMichael C. O’DonovanMichael J. OwenJames T. R. Walters6
Molecular Psychiatry
2026
2026/4/10
00 p.1-9
Cognitive impairments in schizophrenia are associated with poor outcomes and are largely unimproved by current medications. It remains uncertain to what extent cognitive impairments arise from shared aetiology and biology with schizophrenia, or are a consequence of having the condition. We analysed ...
GeneticsSchizophrenia
10.1038/S41380-026-03601-8
ISSN:1359-4184

Investigation of a UK biobank cohort reveals causal associations of self-reported walking pace with telomere length

Dempsey Paddy C.Musicha CrispinRowlands Alex V.Davies MelanieKhunti Kamlesh12
Communications Biology
2022
2022/4/20
Vol.5 No.1 p.1-7
Walking pace is a simple and functional form of movement and a strong predictor of health status, but the nature of its association with leucocyte telomere length (LTL) is unclear. Here we investigate whether walking pace is associated with LTL, which is causally associated with several chronic dise...
BiomarkersPredictive markersRisk factors
10.1038/S42003-022-03323-X
ISSN:2399-3642

SLC45A4 is a pain gene encoding a neuronal polyamine transporter

Steven J. MiddletonSigurbjörn MarkússonMikael ÅkerlundJustin C. DemeMandy Tseng26
Nature
2025
2025/8/20
00 p.1-9
Polyamines are regulatory metabolites with key roles in transcription, translation, cell signalling and autophagy1. They are implicated in multiple neurological disorders, including stroke, epilepsy and neurodegeneration, and can regulate neuronal excitability through interactions with ion channels2...
Chronic painCryoelectron microscopyGenome-wide association studiesTransporters in the nervous system
10.1038/S41586-025-09326-Y
ISSN:0028-0836

Genetic risk, adherence to healthy lifestyle and acute cardiovascular and thromboembolic complications following SARS-COV-2 infection

Junqing XieYuliang FengDanielle NewbyBang ZhengQi Feng10
Nature Communications
2023
2023/8/3
Vol.14 No.1 p.1-10
Current understanding of determinants for COVID-19-related cardiovascular and thromboembolic (CVE) complications primarily covers clinical aspects with limited knowledge on genetics and lifestyles. Here, we analysed a prospective cohort of 106,005 participants from UK Biobank with confirmed SARS-CoV...
EpidemiologyGenetics researchSARS-CoV-2
10.1038/S41467-023-40310-0
ISSN:2041-1723

Plasma proteomics identify biomarkers and undulating changes of brain aging

Wei-Shi LiuJia YouShi-Dong ChenYi ZhangJian-Feng Feng8
Nature Aging
2024
2024/12/9
00 p.1-14
Proteomics enables the characterization of brain aging biomarkers and discernment of changes during brain aging. We leveraged multimodal brain imaging data from 10,949 healthy adults to estimate brain age gap (BAG), an indicator of brain aging. Proteome-wide association analysis across 4,696 partici...
AgeingNeurological disordersProteomics
10.1038/S43587-024-00753-6
ISSN:2662-8465

Morphological and genetic decoding shows heterogeneous patterns of brain aging in chronic musculoskeletal pain

Lei ZhaoJiao LiuWenhui ZhaoJie ChenJicong Fan7
Nature Mental Health
2024
2024/3/26
00 p.1-15
Chronic musculoskeletal pain (CMP), a prevalent and heterogeneous condition characterized by persistent pain in various body parts, is a leading cause of disability worldwide and greatly affects a patient’s brain. Apart from experiencing pain, older adults with CMP also have accelerated cognitive de...
BrainNeural ageingPredictive markers
10.1038/S44220-024-00223-3
ISSN:2731-6076

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

Katherine A. KentistouLena R. KaisingerStasa StankovicMarc VaudelEdson Mendes de Oliveira220
Nature Genetics
2024
2024/7/1
00 p.1-15
Pubertal timing varies considerably and is associated with later health outcomes. We performed multi-ancestry genetic analyses on ~800,000 women, identifying 1,080 signals for age at menarche. Collectively, these explained 11% of trait variance in an independent sample. Women at the top and bottom 1...
Genome-wide association studiesObesity
10.1038/S41588-024-01798-4
ISSN:1061-4036

Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank

Manik GargMarcin KarpinskiDorota MatelskaLawrence MiddletonOliver S. Burren17
Nature Genetics
2024
2024/9/11
Vol.56 No.9 p.1821-1831
The emergence of biobank-level datasets offers new opportunities to discover novel biomarkers and develop predictive algorithms for human disease. Here, we present an ensemble machine-learning framework (machine learning with phenotype associations, MILTON) utilizing a range of biomarkers to predict...
Computational biology and bioinformaticsGeneticsGenetics researchGenomics
10.1038/S41588-024-01898-1
ISSN:1061-4036

Modifiable lifestyle factors and the risk of post-COVID-19 multisystem sequelae, hospitalization, and death

Yunhe WangBinbin SuMarta Alcalde-HerraizNicola L. BarclayYaohua Tian10
Nature Communications
2024
2024/7/29
Vol.15 No.1 p.1-12
Effective prevention strategies for post-COVID complications are crucial for patients, clinicians, and policy makers to mitigate their cumulative burden. This study evaluated the association of modifiable lifestyle factors (smoking, alcohol intake, BMI, physical activity, sedentary time, sleep durat...
EpidemiologyLifestyle modificationRisk factorsSARS-CoV-2Viral infection
10.1038/S41467-024-50495-7
ISSN:2041-1723

Identifying proteomic risk factors for cancer using prospective and exome analyses of 1463 circulating proteins and risk of 19 cancers in the UK Biobank

Keren PapierJoshua R. AtkinsTammy Y. N. TongKezia GaitskellTrishna Desai12
Nature Communications
2024
2024/5/15
Vol.15 No.1 p.1-12
The availability of protein measurements and whole exome sequence data in the UK Biobank enables investigation of potential observational and genetic protein-cancer risk associations. We investigated associations of 1463 plasma proteins with incidence of 19 cancers and 9 cancer subsites in UK Bioban...
OncologyRisk factors
10.1038/S41467-024-48017-6
ISSN:2041-1723

A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets

Matteo Di ScipioMohammad KhanShihong MaoMichael ChongConor Judge13
Nature Communications
2023
2023/8/25
Vol.14 No.1 p.1-15
Identification of gene-by-environment interactions (GxE) is crucial to understand the interplay of environmental effects on complex traits. However, current methods evaluating GxE on biobank-scale datasets have limitations. We introduce MonsterLM, a multiple linear regression method that does not re...
EpidemiologyGenetics researchPredictive markersQuantitative trait
10.1038/S41467-023-40913-7
ISSN:2041-1723

Coagulation factor XII haploinsufficiency is protective against venous thromboembolism in a population-scale multidimensional analysis

Amelia K. HajDavid S. PaulSean J. JurgensHarish EswaranLu-Chen Weng21
Nature Communications
2025
2025/9/1
Vol.16 No.1 p.1-12
Coagulation factor XII has been identified as a potential drug target that could prevent thrombosis without increasing the risk of bleeding. However, human data to support the development of factor XII-directed therapeutics are lacking. To assess the role of factor XII in venous thromboembolism, we ...
Cardiovascular geneticsPopulation geneticsThromboembolism
10.1038/S41467-025-62789-5
ISSN:2041-1723

Associations of dietary patterns with brain health from behavioral, neuroimaging, biochemical and genetic analyses

Ruohan ZhangBei ZhangChun ShenBarbara J. SahakianZeyu Li10
Nature Mental Health
2024
2024/4/1
00 p.1-18
Food preferences significantly influence dietary choices, yet understanding natural dietary patterns in populations remains limited. Here we identifiy four dietary subtypes by applying data-driven approaches to food-liking data from 181,990 UK Biobank participants: ‘starch-free or reduced-starch’ (s...
Brain imagingData mining
10.1038/S44220-024-00226-0
ISSN:2731-6076

Multimodal brain imaging of insomnia, depression and anxiety symptoms indicates transdiagnostic commonalities and differences

Siemon C. de LangeElleke TissinkTom BresserJeanne E. SavageDanielle Posthuma7
Nature Mental Health
2025
2025/5/2
00 p.1-13
Insomnia disorder, major depressive disorder and anxiety disorders are the most common mental health conditions, often co-occurring and sharing genetic risk factors, suggesting possible common brain mechanisms. Here we analyzed multimodal magnetic resonance imaging data from over 25,604 UK Biobank p...
AnxietyDepressionFunctional magnetic resonance imagingMagnetic resonance imaging
10.1038/S44220-025-00412-8
ISSN:2731-6076

Identifying modifiable factors and their joint effect on dementia risk in the UK Biobank

Zhang YiChen Shi-DongDeng Yue-TingYou JiaHe Xiao-Yu15
Nature Human Behaviour
2023
2023/4/6
00 p.1-11
Previous hypothesis-driven research has identified many risk factors linked to dementia. However, the multiplicity and co-occurrence of risk factors have been underestimated. Here we analysed data of 344,324 participants from the UK Biobank with 15 yr of follow-up data for 210 modifiable risk factor...
DementiaRisk factors
10.1038/S41562-023-01585-X
ISSN:2397-3374

Brain age gap as a predictive biomarker that links aging, lifestyle, and neuropsychiatric health

Ruixia ZhangFan YiHongjing MaoZhengxing HuangKai Wang6
Communications Medicine
2025
2025/10/24
Vol.5 No.1 p.1-14
The brain age gap (BAG) is a neuroimaging-derived marker of accelerated brain aging. However, its clinical application faces challenges due to model inaccuracies and unclear links to disease mechanisms. This study investigates the clinical relevance of BAG across neuropsychiatric disorders, cognitiv...
Cognitive neuroscienceNeuroscience
10.1038/S43856-025-01100-5
ISSN:2730-664X

Genetic architecture of cardiac dynamic flow volumes

Bruna GomesAditya SinghJack W. O’SullivanTheresia M. SchnurrPagé C. Goddard16
Nature Genetics
2023
2023/12/11
00 p.1-13
Cardiac blood flow is a critical determinant of human health. However, the definition of its genetic architecture is limited by the technical challenge of capturing dynamic flow volumes from cardiac imaging at scale. We present DeepFlow, a deep-learning system to extract cardiac flow and volumes fro...
Cardiovascular diseasesGenetics researchPopulation genetics
10.1038/S41588-023-01587-5
ISSN:1061-4036

ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

Praveen KavitaPatel Gaurang C.Gurski LaurenAyer Ariane H.Persaud Trikaladarshi54
Communications Biology
2022
2022/10/3
Vol.5 No.1 p.1-15
Glaucoma is a leading cause of blindness. Current glaucoma medications work by lowering intraocular pressure (IOP), a risk factor for glaucoma, but most treatments do not directly target the pathological changes leading to increased IOP, which can manifest as medication resistance as disease progres...
Genome-wide association studiesOptic nerve diseasesTarget identificationTranslational researchVision disorders
10.1038/S42003-022-03932-6
ISSN:2399-3642

Identification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study

Konigorski StefanJanke JürgenPatone GianninoBergmann Manuela M.Lippert Christoph9
European Journal Of Human Genetics
2022
2022/8/11
00 p.1-9
Many studies have shown that abdominal adiposity is more strongly related to health risks than peripheral adiposity. However, the underlying pathways are still poorly understood. In this cross-sectional study using data from RNA-sequencing experiments and whole-body MRI scans of 200 participants in ...
Gene expressionGenetic association studyHigh-throughput screening
10.1038/S41431-022-01161-3
ISSN:1018-4813

Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass

Khurshid ShaanLazarte JulietaPirruccello James P.Weng Lu-ChenChoi Seung Hoan16
Nature Communications
2023
2023/3/21
Vol.14 No.1 p.1-11
Left ventricular mass is a risk marker for cardiovascular events, and may indicate an underlying cardiomyopathy. Cardiac magnetic resonance is the gold-standard for left ventricular mass estimation, but is challenging to obtain at scale. Here, we use deep learning to enable genome-wide association s...
Cardiac hypertrophyCardiovascular geneticsMachine learning
10.1038/S41467-023-37173-W
ISSN:2041-1723

Shared brain and genetic architectures between mental health and physical activity

Zhang WeiPaul Sarah E.Winkler AndersonBogdan RyanBijsterbosch Janine D.
Translational Psychiatry
2022
2022/10/3
Vol.12 No.1 p.1-12
Physical activity is correlated with, and effectively treats various forms of psychopathology. However, whether biological correlates of physical activity and psychopathology are shared remains unclear. Here, we examined the extent to which the neural and genetic architecture of physical activity an...
GeneticsNeuroscience
10.1038/S41398-022-02172-W
ISSN:2158-3188

Deep representation learning for clustering longitudinal survival data from electronic health records

Jiajun QiuYao HuLi LiAbdullah Mesut ErzurumluogluIngrid Braenne16
Nature Communications
2025
2025/3/14
Vol.16 No.1 p.1-14
Precision medicine requires accurate identification of clinically relevant patient subgroups. Electronic health records provide major opportunities for leveraging machine learning approaches to uncover novel patient subgroups. However, many existing approaches fail to adequately capture complex inte...
EpidemiologyHealth servicesMachine learning
10.1038/S41467-025-56625-Z
ISSN:2041-1723

The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland

Shona M. KerrBenjamin S. FletcherGannie TzonevaAlan R. ShuldinerEdmund Gilbert6
Nature Communications
2026
2026/2/3
Vol.17 No.1 p.7160
Hereditary haemochromatosis is caused by pathogenic variants in the homoeostatic iron regulator gene HFE. Outcomes include liver cancer, cirrhosis and arthropathy, but penetrance is incomplete. Here, we use genetic data from >400,000 subjects to determine the genetic risk across 29 regions of the...
Genetic predisposition to diseaseMolecular medicineRare variants
10.1038/S41467-025-65511-7
ISSN:2041-1723

GWAS meta-analysis provides new insights into uveal melanoma risk

Matthew D’MellowHuanwei WangJane M. PalmerKari HemminkiColleen M. Cebulla42
British Journal Of Cancer
2026
2026/6/16
00 p.1-9
The aim of this research is to identify germline genetic variants that predispose to uveal melanoma (UM) using data from nine studies involving 5839 individuals with UM (3853 novel) and 349,863 healthy controls. Five novel UM genome-wide association studies (GWAS) were performed and included for met...
Cancer genomicsEye cancerGenome-wide association studiesOncogenesRisk factors
10.1038/S41416-026-03499-7
ISSN:0007-0920

Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity

Ryan D. ChowKatherine L. NathansonRavi B. Parikh
Npj Precision Oncology
2024
2024/10/19
Vol.8 No.1 p.1-7
Deep learning models for predicting variant pathogenicity have not been thoroughly evaluated on real-world clinical phenotypes. Here, we apply state-of-the-art pathogenicity prediction models to hereditary breast cancer gene variants in UK Biobank participants. Model predictions for missense variant...
Breast cancerCancer geneticsComputational biology and bioinformaticsMolecular medicine
10.1038/S41698-024-00710-X
ISSN:2397-768X

Self-supervised learning for human activity recognition using 700,000 person-days of wearable data

Hang YuanShing ChanAndrew P. CreaghCatherine TongAidan Acquah7
Npj Digital Medicine
2024
2024/4/12
Vol.7 No.1 p.1-10
Accurate physical activity monitoring is essential to understand the impact of physical activity on one’s physical health and overall well-being. However, advances in human activity recognition algorithms have been constrained by the limited availability of large labelled datasets. This study aims t...
Computer scienceDiagnostic markersEpidemiology
10.1038/S41746-024-01062-3
ISSN:2398-6352

Longitudinal changes in brain asymmetry track lifestyle and disease

Karin SaltounB. T. Thomas YeoLynn PaulJorn DiedrichsenDanilo Bzdok
Nature Communications
2025
2025/7/1
Vol.16 No.1 p.1-21
Human beings may have evolved the largest asymmetries of brain organization in the animal kingdom. Hemispheric left-vs-right specialization is especially pronounced in species-unique capacities, including emotional processing such as facial judgments, language-based feats such as reading books, and ...
Computational biology and bioinformaticsNeuroscience
10.1038/S41467-025-60451-8
ISSN:2041-1723

Rare genetic associations with human lifespan in UK Biobank are enriched for oncogenic genes

Junyoung ParkAndrés Peña-TauberLia TalozziMichael D. GreiciusYann Le Guen
Nature Communications
2025
2025/2/28
Vol.16 No.1 p.1-11
Human lifespan is shaped by genetic and environmental factors. To enable precision health, understanding how genetic variants influence mortality is essential. We conducted a survival analysis in European ancestry participants of the UK Biobank, using age-at-death (N=35,551) and last-known-age (N=35...
AgeingGenome-wide association studiesOncogenes
10.1038/S41467-025-57315-6
ISSN:2041-1723

Rare variant associations with plasma protein levels in the UK Biobank

Ryan S. DhindsaOliver S. BurrenBenjamin B. SunBram P. PrinsDorota Matelska25
Nature
2023
2023/10/4
Vol.622 No.7982 p.339-347
Integrating human genomics and proteomics can help elucidate disease mechanisms, identify clinical biomarkers and discover drug targets1–4. Because previous proteogenomic studies have focused on common variation via genome-wide association studies, the contribution of rare variants to the plasm...
Genetic association studyGenomicsProteomicsQuantitative traitRare variants
10.1038/S41586-023-06547-X
ISSN:0028-0836

Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression

Ruoyu TianTian GeHyeokmoon KweonDaniel B. RochaMax Lam16
Nature Communications
2024
2024/2/26
Vol.15 No.1 p.1-12
Nearly two hundred common-variant depression risk loci have been identified by genome-wide association studies (GWAS). However, the impact of rare coding variants on depression remains poorly understood. Here, we present whole-exome sequencing analyses of depression with seven different definit...
DepressionGenetic association study
10.1038/S41467-024-45774-2
ISSN:2041-1723

Modifiable traits and genetic associations with grey matter volume in mid-to-late adulthood: a population-based study in the UK biobank

Guoqing PanYi ZhangJu-Jiao KangYuchao jiangWei zhang13
Npj Aging
2025
2025/7/17
Vol.11 No.1 p.1-13
Given the growing global elderly population and the accelerating decrease in grey matter volume (GMV) with age, understanding healthy brain aging is increasingly important. This study investigates whether variations in modifiable traits can account for differences in GMV and whether these traits can...
DementiaEpidemiologyPsychiatric disordersRisk factors
10.1038/S41514-025-00255-8
ISSN:2731-6068

Association between functional gastrointestinal disorders and Parkinson’s disease in a prospective cohort study

Yixiang LinHaoling XuJiayi ZhengTianxin LinMinhui Wang9
Npj Parkinson's Disease
2025
2025/6/4
Vol.11 No.1 p.1-8
The influence of functional gastrointestinal disorders (FGIDs) on the onset of Parkinson’s disease (PD) remains unclear. Therefore, in this study, we examined the effect of FGIDs and their subtypes on the PD onset. In Cox proportional hazards model, FGIDs significantly increased the risk of PD incid...
DiseasesRisk factors
10.1038/S41531-025-01000-4
ISSN:2373-8057

A genome-wide association study of imaging-defined atherosclerosis

Anders GummessonPer LundmarkQiao Sen ChenElias BjörnsonKoen F. Dekkers25
Nature Communications
2025
2025/3/31
Vol.16 No.1 p.1-12
Imaging-defined atherosclerosis represents an intermediate phenotype of atherosclerotic cardiovascular disease (ASCVD). Genome-wide association studies (GWAS) on directly measured coronary plaques using coronary computed tomography angiography (CCTA) are scarce. In the so far largest population-base...
AtherosclerosisCardiovascular geneticsGenome-wide association studies
10.1038/S41467-025-57457-7
ISSN:2041-1723

Long-term exposure to ambient benzene and brain disorders among urban adults

Yongxuan LiYujia BaoNe QiangMin ZhongZheshen Han12
Nature Cities
2024
2024/11/15
00 p.1-12
Ambient benzene is a volatile anthropogenic pollutant and known carcinogen associated with industrialization and urbanization. Benzene is a natural constituent of petroleum, so cities, which concentrate combustion through industrial activity, transit and heating, generate a great deal. In addition t...
Environmental impactNeurodegenerative diseasesPsychiatric disordersPublic health
10.1038/S44284-024-00156-Z
ISSN:2731-9997

Plasma proteomics links brain and immune system aging with healthspan and longevity

Hamilton Se-Hwee OhYann Le GuenNimrod RappoportDeniz Yagmur UreyAmelia Farinas12
Nature Medicine
2025
2025/7/9
00 p.1-9
Plasma proteins derived from specific organs can estimate organ age and mortality, but their sensitivity to environmental factors and their robustness in forecasting onset of organ diseases and mortality remain unclear. To address this gap, we estimate the biological age of 11 organs using plasma pr...
Prognostic markersProteome informaticsProteomics
10.1038/S41591-025-03798-1
ISSN:1078-8956

Identification of 22 susceptibility loci associated with testicular germ cell tumors

John PlutaLouise C. PyleKevin T. NeadRona WilfMingyao Li56
Nature Communications
2021
2021/7/23
Vol.12 No.1 p.1-13
Testicular germ cell tumors (TGCT) are the most common tumor in young white men and have a high heritability. In this study, the international Testicular Cancer Consortium assemble 10,156 and 179,683 men with and without TGCT, respectively, for a genome-wide association study. This meta-analysis ide...
Cancer geneticsGenetic association studyTesticular cancer
10.1038/S41467-021-24334-Y
ISSN:2041-1723

A population-based phenome-wide association study of cardiac and aortic structure and function

Wenjia BaiHideaki SuzukiJian HuangCatherine FrancisShuo Wang19
Nature Medicine
2020
2020/8/24
Vol.26 No.10 p.1654-1662
Differences in cardiac and aortic structure and function are associated with cardiovascular diseases and a wide range of other types of disease. Here we analyzed cardiovascular magnetic resonance images from a population-based study, the UK Biobank, using an automated machine-learning-based analysis...
Cardiovascular diseasesMedical imagingMedical research
10.1038/S41591-020-1009-Y
ISSN:1078-8956

Wearable accelerometer-derived physical activity and incident disease

Khurshid ShaanWeng Lu-ChenNauffal VictorPirruccello James P.Venn Rachael A.9
Npj Digital Medicine
2022
2022/9/2
Vol.5 No.1 p.1-10
Physical activity is regarded as favorable to health but effects across the spectrum of human disease are poorly quantified. In contrast to self-reported measures, wearable accelerometers can provide more precise and reproducible activity quantification. Using wrist-worn accelerometry data from the ...
Prognostic markersRisk factors
10.1038/S41746-022-00676-9
ISSN:2398-6352

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

Asmundur OddssonValgerdur SteinthorsdottirGudjon R. OskarssonUnnur StyrkarsdottirKristjan H. S. Moore41
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

Adjusting for common variant polygenic scores improves yield in rare variant association analyses

Jurgens Sean J.Pirruccello James P.Choi Seung HoanMorrill Valerie N.Chaffin Mark8
Nature Genetics
2023
2023/3/23
00 p.1-5
With the emergence of large-scale sequencing data, methods for improving power in rare variant association tests are needed. Here we show that adjusting for common variant polygenic scores improves yield in gene-based rare variant association tests across 65 quantitative traits in the UK Biobank (up...
DNA sequencingGenome informaticsGenome-wide association studies
10.1038/S41588-023-01342-W
ISSN:1061-4036

Population-based body–brain mapping links brain morphology with anthropometrics and body composition

Tiril P. GurholtTobias KaufmannOleksandr FreiDag AlnæsUnn K. Haukvik17
Translational Psychiatry
2021
2021/5/18
Vol.11 No.1 p.1-12
Understanding complex body–brain processes and the interplay between adipose tissue and brain health is important for understanding comorbidity between psychiatric and cardiometabolic disorders. We investigated associations between brain structure and anthropometric and body composition measures usi...
BiomarkersNeuroscience
10.1038/S41398-021-01414-7
ISSN:2158-3188

Body composition and risk factors for cardiovascular disease in global multi-ethnic populations

Jennifer L. CarterNoraidatulakma AbdullahFiona BraggNor Azian Abdul MuradHannah Taylor12
International Journal Of Obesity
2023
2023/7/17
00 p.1-10
No large-scale studies have compared associations between body composition and cardiovascular risk factors across multi-ethnic populations. Population-based surveys included 30,721 Malay, 10,865 Indian and 25,296 Chinese adults from The Malaysian Cohort, and 413,737 White adults from UK Biobank. Sex...
Cardiovascular diseasesEpidemiologyRisk factors
10.1038/S41366-023-01339-9
ISSN:0307-0565

Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases

Jonathan MitchellNiedzica CamachoPatrick SheaKonrad H. StopsackVijai Joseph34
Nature Communications
2025
2025/2/19
Vol.16 No.1 p.1-11
To assess the contribution of rare coding germline genetic variants to prostate cancer risk and severity, we perform here a meta-analysis of 37,184 prostate cancer cases and 331,329 male controls from five cohorts with germline whole exome or genome sequencing data, and one cohort with imputed array...
Cancer geneticsPopulation geneticsProstate cancer
10.1038/S41467-025-56944-1
ISSN:2041-1723

Diabetes mellitus and risk of breast cancer: a large-scale, prospective, population-based study

Fanxiu XiongJingxuan WangJovia L. NierenbergErin L. Van BlariganStacey A. Kenfield9
British Journal Of Cancer
2023
2023/7/5
00 p.1-8
The objective of this study was to evaluate associations of diabetes overall, type 1 diabetes (T1D), and type 2 diabetes (T2D) with breast cancer (BCa) risk. We included 250,312 women aged 40–69 years between 2006 and 2010 from the UK Biobank cohort. Adjusted hazard ratios (aHRs) and 95% confidence ...
Cancer epidemiologyDiabetes
10.1038/S41416-023-02345-4
ISSN:0007-0920

Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk

Zuyou WuYang YangCaibo NingJiali LiYimin Cai18
Nature Communications
2025
2025/8/12
Vol.16 No.1 p.1-17
Bone marrow adipose tissue, as a distinct adipose subtype, has been implicated in the pathophysiology of skeletal, metabolic, and hematopoietic disorders. To identify its underlying genetic factors, we utilized a deep learning algorithm capable of quantifying bone marrow fat fraction (BMFF) in the v...
BoneGenetics researchGenome-wide association studiesRisk factors
10.1038/S41467-025-62826-3
ISSN:2041-1723

Large-scale proteomic analyses of incident Parkinson’s disease reveal new pathophysiological insights and potential biomarkers

Yi-Han GanLing-Zhi MaYi ZhangJia YouYu Guo13
Nature Aging
2025
2025/2/20
00 p.1-16
The early pathophysiology of Parkinson’s disease (PD) is poorly understood. We analyzed 2,920 Olink-measured plasma proteins in 51,804 UK Biobank participants, identifying 859 incident PD cases after 14.45 years. We found 38 PD-related proteins, with six of the top ten validated in the Parkinson’s P...
AgeingParkinson's diseaseProteomics
10.1038/S43587-025-00818-0
ISSN:2662-8465

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Jurgens Sean J.Choi Seung HoanMorrill Valerie N.Chaffin MarkPirruccello James P.18
Nature Genetics
2022
2022/2/17
00 p.1-11
Cardiometabolic diseases are the leading cause of death worldwide. Despite a known genetic component, our understanding of these diseases remains incomplete. Here, we analyzed the contribution of rare variants to 57 diseases and 26 cardiometabolic traits, using data from 200,337 UK Biobank participa...
Cardiovascular diseasesDNA sequencingGenetics researchPopulation genetics
10.1038/S41588-021-01011-W
ISSN:1061-4036

Genetic regulation of post-translational modification of two distinct proteins

Landini AriannaTrbojević-Akmačić IrenaNavarro PauTsepilov Yakov A.Sharapov Sodbo Z.14
Nature Communications
2022
2022/3/24
Vol.13 No.1 p.1-13
Post-translational modifications diversify protein functions and dynamically coordinate their signalling networks, influencing most aspects of cell physiology. Nevertheless, their genetic regulation or influence on complex traits is not fully understood. Here, we compare the genetic regulation of th...
Genome-wide association studiesGlycosylation
10.1038/S41467-022-29189-5
ISSN:2041-1723

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Cristopher V. Van HoutIoanna TachmazidouJoshua D. BackmanJoshua D. HoffmanDaren Liu35
Nature
2020
2020/10/21
Vol.586 No.7831 p.749-756
The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world1. Here we describe the release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million co...
Genetics researchGenomicsNext-generation sequencingRare variants
10.1038/S41586-020-2853-0
ISSN:0028-0836

Residential green space, air pollution, and related metabolites in association with depression among cancer survivors

Jianhui ZhaoJingyu YeErxu XueLiying XuJing Sun13
Nature Communications
2026
2026/3/9
0
The association of natural environmental exposure and air pollution with depression incidence among cancer survivors, as well as the potential role of plasma metabolomics, remains unclear. Here, we analyze 21,507 cancer survivors from the UK Biobank over a median follow-up of 12.39 years and find th...
OncologyPlanetary science
10.1038/S41467-026-70393-4
ISSN:2041-1723

Plasma proteomic profiles predict individual future health risk

Jia YouYu GuoYi ZhangJu-Jiao KangLin-Bo Wang8
Nature Communications
2023
2023/11/28
Vol.14 No.1 p.1-13
Developing a single-domain assay to identify individuals at high risk of future events is a priority for multi-disease and mortality prevention. By training a neural network, we developed a disease/mortality-specific proteomic risk score (ProRS) based on 1461 Olink plasma proteins measured in 52,006...
DiseasesMachine learningPredictive markersProteomicsTranslational research
10.1038/S41467-023-43575-7
ISSN:2041-1723

A genetically informed brain atlas for enhancing brain imaging genomics

Jingxuan BaoJunhao WenChanggee ChangShizhuo MuJiong Chen19
Nature Communications
2025
2025/4/14
Vol.16 No.1 p.1-18
Brain imaging genomics has manifested considerable potential in illuminating the genetic determinants of human brain structure and function. This has propelled us to develop the GIANT (Genetically Informed brAiN aTlas) that accounts for genetic and neuroanatomical variations simultaneously. Integrat...
Genetics of the nervous systemQuantitative traitStatistical methods
10.1038/S41467-025-57636-6
ISSN:2041-1723

Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development

Alfred PozarickijCathy WilliamsPirro G. HysiJeremy A. Guggenheim
Communications Biology
2019
2019/5/6
Vol.2 No.1 p.1-8
A genetic contribution to refractive error has been confirmed by the discovery of more than 150 associated variants in genome-wide association studies (GWAS). Environmental factors such as education and time outdoors also demonstrate strong associations. Currently however, the extent of gene-environ...
Genetic interactionRefractive errors
10.1038/S42003-019-0387-5
ISSN:2399-3642

Characterizing spatiotemporal white matter hyperintensity pathophysiology in vivo to disentangle vascular and neurodegenerative contributions

Olivier ParentZaki AlasmarSophia OsborneAurélie BussyManuela Costantino17
Nature Communications
2026
2026/3/31
0
White matter hyperintensities (WMHs) are neuroimaging markers widely interpreted as caused by cerebral small vessel disease, yet emerging evidence suggests that a subset may have a neurodegenerative etiology. Current imaging methods have lacked the specificity to disentangle biological processes und...
Alzheimer's diseaseWhite matter disease
10.1038/S41467-026-70832-2
ISSN:2041-1723

Temporal trends of blood-based markers in various psychiatric disorders and their cross-sectional brain structure associations

Yu-Jia WangZairen ZhouYu-Zhu LiJu-Jiao KangJin-Tai Yu10
Communications Medicine
2025
2025/6/19
Vol.5 No.1 p.1-13
Understanding the temporal trends of blood-based biomarkers and their associations with brain structure is crucial for early detection and intervention in psychiatric disorders. This study aimed to explore these trends in the decade before and after diagnosis, along with the cross-sectional relation...
MetabolomicsPreventive medicinePsychiatric disorders
10.1038/S43856-025-00957-W
ISSN:2730-664X

Genetic susceptibility modifies the association of long-term air pollution exposure on Parkinson’s disease

Yi-Ming HuangYa-Hui MaPei-Yang GaoXi-Han CuiJia-Hui Hou12
Npj Parkinson's Disease
2024
2024/1/17
Vol.10 No.1 p.1-7
Inconsistent findings exist regarding the potential association between polluted air and Parkinson’s disease (PD), with unclear insights into the role of inherited sensitivity. This study sought to explore the potential link between various air pollutants and PD risk, investigating whether genetic s...
Parkinson's diseaseRisk factors
10.1038/S41531-024-00633-1
ISSN:2373-8057

Bidirectional association between immune-mediated diseases and major depressive disorder: evidence from cohort, genome-wide pleiotropic, and experimental studies

Xiaohua ChenHuan LiuYurong LiuCong ZhangYimeng Ren19
Molecular Psychiatry
2026
2026/2/4
00 p.1-12
Although immune-mediated diseases (IMDs) and major depressive disorder (MDD) commonly co-occur, the bidirectional relationship between them remains to be fully elucidated. Using data from the prospective UK Biobank cohort, we evaluated the bidirectional associations by time-varying Cox proportional ...
DepressionDiseases
10.1038/S41380-026-03459-W
ISSN:1359-4184

Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences

Oliver S. BurrenRyan S. DhindsaSri V. V. DeeviSean WenAbhishek Nag24
Nature Genetics
2024
2024/8/27
00 p.1-9
Telomeres protect chromosome ends from damage and their length is linked with human disease and aging. We developed a joint telomere length metric, combining quantitative PCR and whole-genome sequencing measurements from 462,666 UK Biobank participants. This metric increased SNP heritability, sugges...
GenomicsHaematological cancer
10.1038/S41588-024-01884-7
ISSN:1061-4036

Gene–environment correlations across geographic regions affect genome-wide association studies

Abdellaoui AbdelDolan Conor V.Verweij Karin J. H.Nivard Michel G.
Nature Genetics
2022
2022/8/22
Vol.54 No.9 p.1345-1354
Gene–environment correlations affect associations between genetic variants and complex traits in genome-wide association studies (GWASs). Here we showed in up to 43,516 British siblings that educational attainment polygenic scores capture gene–environment correlations, and that migration extends the...
Behavioural geneticsGenome-wide association studies
10.1038/S41588-022-01158-0
ISSN:1061-4036

C > U mutations generate immunogenic peptides in SARS-CoV-2

Gergő Mihály BaloghBalázs KonczLeó AsztalosEszter AriNikolett Gémes11
Nature Communications
2025
2025/11/19
Vol.16 No.1 p.101560
The rapid spread of SARS-CoV-2 worldwide has given rise to numerous variants. While the impact of viral mutations on antibody escape has been extensively studied, an unresolved issue concerns how emerging mutations shape HLA-restricted T-cell immune responses. Here, we analyse SARS-CoV-2 genomic var...
MHC class IMutationPopulation geneticsViral infection
10.1038/S41467-025-65251-8
ISSN:2041-1723

Diverse ancestral representation improves genetic intolerance metrics

Alexander L. HanChloe F. SandsDorota MatelskaJessica C. ButtsVida Ravanmehr13
Nature Communications
2025
2025/3/18
Vol.16 No.1 p.1-9
The unprecedented scale of genomic databases has revolutionized our ability to identify regions in the human genome intolerant to variation—regions often implicated in disease. However, these datasets remain constrained by limited ancestral diversity. Here, we analyze whole-exome sequencing data fro...
Computational biology and bioinformaticsGenetic variation
10.1038/S41467-025-57885-5
ISSN:2041-1723

Are infections associated with cognitive decline and neuroimaging outcomes? A historical cohort study using data from the UK Biobank study linked to electronic health records

Muzambi RutendoBhaskaran KrishnanRentsch Christopher T.Smeeth LiamBrayne Carol9
Translational Psychiatry
2022
2022/9/15
Vol.12 No.1 p.1-11
While there is growing evidence of associations between infections and dementia risk, associations with cognitive impairment and potential structural correlates of cognitive decline remain underexplored. Here we aimed to investigate the presence and nature of any associations between common infectio...
DiseasesPathogenesis
10.1038/S41398-022-02145-Z
ISSN:2158-3188

Associations of 2923 plasma proteins with incident inflammatory bowel disease in a prospective cohort study and genetic analysis

Xuening ZhangHao ZhaoMeng WanJinyu ManTongchao Zhang7
Nature Communications
2025
2025/3/21
Vol.16 No.1 p.1-15
The prospective relationship between proteomics and inflammatory bowel disease (IBD) remains largely underexplored, presenting potential of therapeutic interventions. Using data from 48,800 IBD-free participants in the UK Biobank Pharma Proteomics Project (UKB-PPP), we assessed associations between ...
Genetic association studyInflammatory bowel diseaseProteomicsTarget identification
10.1038/S41467-025-57879-3
ISSN:2041-1723

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

Katherine A. KentistouBrandon E. M. LimLena R. KaisingerValgerdur SteinthorsdottirLuke N. Sharp22
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

Potential utility of risk stratification for multicancer screening with liquid biopsy tests

Kim Elle S.Scharpf Robert B.Garcia-Closas MontserratVisvanathan KalaVelculescu Victor E.6
Npj Precision Oncology
2023
2023/4/22
Vol.7 No.1 p.1-7
Our proof-of-concept study reveals the potential of risk stratification by the combined effects of age, polygenic risk scores (PRS), and non-genetic risk factors in increasing the risk-benefit balance of rapidly emerging non-invasive multicancer early detection (MCED) liquid biopsy tests. We develop...
Cancer epidemiologyCancer genomicsCancer modelsCancer preventionCancer screening
10.1038/S41698-023-00377-W
ISSN:2397-768X

The contributions of mitochondrial and nuclear mitochondrial genetic variation to neuroticism

Charley XiaSarah J. PickettDavid C. M. LiewaldAlexander WeissGavin Hudson6
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

MetaboLM: a metabolomic language model for multi-disease early prediction and risk stratification

Shizheng QiuJirui GuoZhishuai ZhangHaozheng LiangHuanyu You8
Nature Communications
2025
2025/12/3
0
Early prediction of chronic diseases from routine blood tests has potential to transform public health prevention strategies. Here, we developed MetaboLM, a transformer-based language model pre-trained on plasma metabolomics data from 83,744 relatively healthy UK Biobank participants. After fine-tun...
Machine learningMetabolomicsPredictive markers
10.1038/S41467-025-66163-3
ISSN:2041-1723

Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease

Cadby GemmaGiles CoreyMelton Phillip E.Huynh KevinMellett Natalie A.44
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

Adjusting for genetic confounders in transcriptome-wide association studies improves discovery of risk genes of complex traits

Siming ZhaoWesley CrouseSheng QianKaixuan LuoMatthew Stephens6
Nature Genetics
2024
2024/1/26
00 p.1-12
Many methods have been developed to leverage expression quantitative trait loci (eQTL) data to nominate candidate genes from genome-wide association studies. These methods, including colocalization, transcriptome-wide association studies (TWAS) and Mendelian randomization-based methods; however, all...
Genetic association studyGenome-wide association studies
10.1038/S41588-023-01648-9
ISSN:1061-4036

A general dimension of genetic sharing across diverse cognitive traits inferred from molecular data

Javier de la FuenteGail DaviesAndrew D. GrotzingerElliot M. Tucker-DrobIan J. Deary
Nature Human Behaviour
2020
2020/9/7
Vol.5 No.1 p.49-58
It has been known since 1904 that, in humans, diverse cognitive traits are positively intercorrelated. This forms the basis for the general factor of intelligence (g). Here, we directly test whether there is a partial genetic basis for individual differences in g using data from seven different cogn...
GeneticsHuman behaviour
10.1038/S41562-020-00936-2
ISSN:2397-3374

Cluster and survival analysis of UK biobank data reveals associations between physical multimorbidity clusters and subsequent depression

Lauren Nicole DeLongKelly FleetwoodRegina PriggePaola GaldiBruce Guthrie6
Communications Medicine
2025
2025/5/13
Vol.5 No.1 p.1-9
Multimorbidity, the co-occurrence of two or more conditions within an individual, is a growing challenge for health and care delivery as well as for research. Combinations of physical and mental health conditions are highlighted as particularly important. Here, we investigated associations between p...
Computational biology and bioinformaticsDiseasesHealth care
10.1038/S43856-025-00825-7
ISSN:2730-664X

Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

Seung Hoan ChoiSean J. JurgensLing XiaoMatthew C. HillChristopher M. Haggerty103
Nature Genetics
2025
2025/3/6
Vol.57 No.3 p.548-562
Atrial fibrillation (AF) is a prevalent and morbid abnormality of the heart rhythm with a strong genetic component. Here, we meta-analyzed genome and exome sequencing data from 36 studies that included 52,416 AF cases and 277,762 controls. In burden tests of rare coding variation, we identified nove...
Atrial fibrillationCardiomyopathiesDNA sequencingGenetic association studyGenomics
10.1038/S41588-025-02074-9
ISSN:1061-4036

Impact of sleep duration on executive function and brain structure

Tai Xin YouChen ChengManohar SanjayHusain Masud
Communications Biology
2022
2022/3/3
Vol.5 No.1 p.1-10
Sleep is essential for life, including daily cognitive processes, yet the amount of sleep required for optimal brain health as we grow older is unclear. Poor memory and increased risk of dementia is associated with the extremes of sleep quantity and disruption of other sleep characteristics. We exam...
Cognitive ageingCognitive neuroscienceSleep
10.1038/S42003-022-03123-3
ISSN:2399-3642

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes

Akbari ParsaSosina Olukayode A.Bovijn JonasLandheer KarlNielsen Jonas B.60
Nature Communications
2022
2022/8/23
Vol.13 No.1 p.1-17
Body fat distribution is a major, heritable risk factor for cardiometabolic disease, independent of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non-Europeans) from the UK, Sweden and Mexico, we identify 16 genes associated with fat distribution at exome-wide s...
Genetic association studyObesityPersonalized medicine
10.1038/S41467-022-32398-7
ISSN:2041-1723

Oxytocin-pathway polygenic scores for severe mental disorders and metabolic phenotypes in the UK Biobank

Winterton AdrianoBettella Francescode Lange Ann-Marie G.Haram MaritSteen Nils Eiel8
Translational Psychiatry
2021
2021/11/25
Vol.11 No.1 p.1-9
Oxytocin is a neuromodulator and hormone that is typically associated with social cognition and behavior. In light of its purported effects on social cognition and behavior, research has investigated its potential as a treatment for psychiatric illnesses characterized by social dysfunction, such as ...
GenomicsPsychiatric disorders
10.1038/S41398-021-01725-9
ISSN:2158-3188

Sociodemographic factors, biomarkers and comorbidities associated with post-acute COVID-19 sequelae in UK Biobank

Marta Alcalde-HerraizShahed IqbalJeffrey J. WallinYunhao LiuWildaliz Nieves9
Nature Communications
2025
2025/7/30
Vol.16 No.1 p.1-11
Long-term sequelae of COVID-19 remain critical public health concerns, with limited therapeutic options available. We conducted two case-control studies among COVID-19 infected individuals in the UK Biobank to explore the association of sociodemographic factors, clinical biomarkers, and comorbiditie...
BiomarkersEpidemiologyRisk factors
10.1038/S41467-025-62354-0
ISSN:2041-1723

Family-based genome-wide association study designs for increased power and robustness

Junming GuanTammy TanSeyed Moeen NehzatiMichael BennettPatrick Turley7
Nature Genetics
2025
2025/3/10
00 p.1-9
Family-based genome-wide association studies (FGWASs) use random, within-family genetic variation to remove confounding from estimates of direct genetic effects (DGEs). Here we introduce a ‘unified estimator’ that includes individuals without genotyped relatives, unifying standard and FGWAS while in...
Genome-wide association studiesStatistics
10.1038/S41588-025-02118-0
ISSN:1061-4036

Developing cardiac digital twin populations powered by machine learning provides electrophysiological insights in conduction and repolarization

Shuang QianDevran UgurluElliot FairweatherLaura Dal TosoYu Deng20
Nature Cardiovascular Research
2025
2025/5/16
Vol.4 No.5 p.624-636
Large-cohort imaging and diagnostic studies often assess cardiac function but overlook underlying biological mechanisms. Cardiac digital twins (CDTs) are personalized physics-constrained and physiology-constrained in silico representations, uncovering multi-scale insights tied to these mechanisms. I...
Biomedical engineeringComputational modelsMachine learningPredictive markers
10.1038/S44161-025-00650-0
ISSN:2731-0590

A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank

Xueyi ShenDavid M. HowardMark J. AdamsW. David HillToni-Kim Clarke8
Nature Communications
2020
2020/5/8
Vol.11 No.1 p.1-16
Depression is a leading cause of worldwide disability but there remains considerable uncertainty regarding its neural and behavioural associations. Here, using non-overlapping Psychiatric Genomics Consortium (PGC) datasets as a reference, we estimate polygenic risk scores for depression (depression-...
DepressionGenome-wide association studiesPrefrontal cortex
10.1038/S41467-020-16022-0
ISSN:2041-1723

Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease

Young William J.Haessler JeffreyBenjamins Jan-WalterRepetto LindaYao Jie94
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

A personalized time-resolved 3D mesh generative model for unveiling normal heart dynamics

Mengyun QiaoKathryn A. McGurkShuo WangPaul M. MatthewsDeclan P. O’Regan6
Nature Machine Intelligence
2025
2025/5/19
00 p.1-12
Understanding the structure and motion of the heart is crucial for diagnosing and managing cardiovascular diseases, the leading cause of global death. There is wide variation in cardiac shape and motion patterns, influenced by demographic, anthropometric and disease factors. Unravelling normal patte...
Cardiovascular diseasesMagnetic resonance imaging
10.1038/S42256-025-01035-5
ISSN:2522-5839

Long-term risk of psychiatric disorder and psychotropic prescription after SARS-CoV-2 infection among UK general population

Yunhe WangBinbin SuJunqing XieClemente Garcia-RizoDaniel Prieto-Alhambra
Nature Human Behaviour
2024
2024/3/21
00 p.1-12
Despite evidence indicating increased risk of psychiatric issues among COVID-19 survivors, questions persist about long-term mental health outcomes and the protective effect of vaccination. Using UK Biobank data, three cohorts were constructed: SARS-CoV-2 infection (n = 26,101), contemporary control...
EpidemiologyPsychiatric disorders
10.1038/S41562-024-01853-4
ISSN:2397-3374

Plasma proteomic profiles predict future dementia in healthy adults

Yu GuoJia YouYi ZhangWei-Shi LiuYu-Yuan Huang11
Nature Aging
2024
2024/2/12
00 p.1-14
The advent of proteomics offers an unprecedented opportunity to predict dementia onset. We examined this in data from 52,645 adults without dementia in the UK Biobank, with 1,417 incident cases and a follow-up time of 14.1 years. Of 1,463 plasma proteins, GFAP, NEFL, GDF15 and LTBP2 consistently ass...
AgeingDementiaNeurodegenerationPredictive markers
10.1038/S43587-023-00565-0
ISSN:2662-8465

Plasma proteomic signatures of social isolation and loneliness associated with morbidity and mortality

Chun ShenRuohan ZhangJintai YuBarbara J. SahakianWei Cheng6
Nature Human Behaviour
2025
2025/1/3
00 p.1-15
The biology underlying the connection between social relationships and health is largely unknown. Here, leveraging data from 42,062 participants across 2,920 plasma proteins in the UK Biobank, we characterized the proteomic signatures of social isolation and loneliness through proteome-wide associat...
Human behaviourProteomicsRisk factors
10.1038/S41562-024-02078-1
ISSN:2397-3374

Observational and genetic associations between cardiorespiratory fitness and cancer: a UK Biobank and international consortia study

Eleanor L. WattsTomas I. GonzalesTessa StrainPedro F. Saint-MauriceD. Timothy Bishop23
British Journal Of Cancer
2023
2023/12/6
00 p.1-11
The association of fitness with cancer risk is not clear. We used Cox proportional hazards models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for risk of lung, colorectal, endometrial, breast, and prostate cancer in a subset of UK Biobank participants who completed a submaxima...
Cancer epidemiologyRisk factors
10.1038/S41416-023-02489-3
ISSN:0007-0920

Association of wearable device-measured vigorous intermittent lifestyle physical activity with mortality

Stamatakis EmmanuelAhmadi Matthew N.Gill Jason M. R.Thøgersen-Ntoumani CecilieGibala Martin J.7
Nature Medicine
2022
2022/12/8
Vol.28 No.12 p.2521-2529
Wearable devices can capture unexplored movement patterns such as brief bursts of vigorous intermittent lifestyle physical activity (VILPA) that is embedded into everyday life, rather than being done as leisure time exercise. Here, we examined the association of VILPA with all-cause, cardiovascular ...
Cardiovascular diseasesEpidemiologyRisk factors
10.1038/S41591-022-02100-X
ISSN:1078-8956

Sex differences in cancer incidence: prospective analyses in the UK Biobank

Maira KhanKeren PapierKirstin L. PirieTim J. KeyJoshua Atkins6
British Journal Of Cancer
2025
2025/5/8
00 p.1-11
We examined differences in cancer incidence between women and men and the extent to which these persisted after accounting for established risk factors. Prospective analyses in the UK Biobank to examine associations between sex and risk of 15 cancers (and 13 subtypes) using minimal and multivariable...
Cancer epidemiologyRisk factors
10.1038/S41416-025-03028-Y
ISSN:0007-0920

Breaking the norm: population-scale deviations of brain structure in depression and anxiety

Julius WiegertSebastián Marty-LombardiJailan OwedaEsra LenzPeter Ahnert35
Molecular Psychiatry
2026
2026/7/18
00 p.1-12
Structural brain alterations associated with depression and anxiety are subtle, heterogeneous, and difficult to characterize. We applied autoencoder-based normative modeling to contrastively learned structural MRI representations from two large population-based cohorts (German National Cohort, N ≈ 2...
DepressionDiagnostic markersNeuroscience
10.1038/S41380-026-03691-4
ISSN:1359-4184

Neural ADMIXTURE for rapid genomic clustering

Albert Dominguez MantesDaniel Mas MontserratCarlos D. BustamanteXavier Giró-i-NietoAlexander G. Ioannidis
Nature Computational Science
2023
2023/7/6
Vol.3 No.7 p.621-629
Characterizing the genetic structure of large cohorts has become increasingly important as genetic studies extend to massive, increasingly diverse biobanks. Popular methods decompose individual genomes into fractional cluster assignments with each cluster representing a vector of DNA variant frequen...
Genetic variationGenome informaticsMachine learning
10.1038/S43588-023-00482-7
ISSN:2662-8457

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

Young William J.Lahrouchi NajimIsaacs AaronDuong ThuyVyFoco Luisa166
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

Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity

Na ZhuCharles A. LeDucIlene FennoyBlandine LaferrèreClaudia A. Doege8
Npj Genomic Medicine
2023
2023/10/21
Vol.8 No.1 p.1-6
Bassoon (BSN) is a component of a hetero-dimeric presynaptic cytomatrix protein that orchestrates neurotransmitter release with Piccolo (PCLO) from glutamatergic neurons throughout the brain. Heterozygous missense variants in BSN have previously been associated with neurodegenerative disorders in hu...
Medical genomicsMetabolic disorders
10.1038/S41525-023-00376-7
ISSN:2056-7944

Polygenic scores for cardiovascular risk factors improve estimation of clinical outcomes in CCB treatment compared to pharmacogenetic variants alone

Deniz TürkmenJack BowdenJane A. H. MasoliJoão DelgadoChia-Ling Kuo7
The Pharmacogenomics Journal
2024
2024/4/17
Vol.24 No.3 p.120
Pharmacogenetic variants are associated with clinical outcomes during Calcium Channel Blocker (CCB) treatment, yet whether the effects are modified by genetically predicted clinical risk factors is unknown. We analyzed 32,000 UK Biobank participants treated with dihydropiridine CCBs (mean 5.9 years)...
Genetic association studyRisk factors
10.1038/S41397-024-00333-2
ISSN:1470-269X

Regional adiposity shapes brain and cognition in adults

Die ZhangYingji FuChenye ShenChaoqiang LiuNanguang Chen8
Nature Mental Health
2025
2025/9/15
00 p.1-13
Body mass index (BMI) is commonly used to assess obesity, but it fails to capture the complexities of regional adiposity, which can have varying effects on brain health. This study analyzed data from over 18,000 UK Biobank participants to investigate the relationship between regional adiposity, meas...
Brain imagingNeural ageingPredictive markers
10.1038/S44220-025-00501-8
ISSN:2731-6076

Different scaling of linear models and deep learning in UKBiobank brain images versus machine-learning datasets

Marc-Andre SchulzB. T. Thomas YeoJoshua T. VogelsteinJanaina Mourao-MiranadaJakob N. Kather8
Nature Communications
2020
2020/8/25
Vol.11 No.1 p.1-15
Recently, deep learning has unlocked unprecedented success in various domains, especially using images, text, and speech. However, deep learning is only beneficial if the data have nonlinear relationships and if they are exploitable at available sample sizes. We systematically profiled the performan...
Genetic databasesNeural decoding
10.1038/S41467-020-18037-Z
ISSN:2041-1723

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

Wang ChaoyueMartins-Bach Aurea B.Alfaro-Almagro FidelDouaud GwenaëlleKlein Johannes C.12
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

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

Proteomic signatures of smoking and their associations with risk of incident diseases and mortality in diverse populations

Sihao XiaoBowen LiuM. Austin ArgentieriLazaros BelbasisClaire L. Shovlin23
Nature Communications
2025
2025/12/24
0
Smoking is the most important behavioural determinant of morbidity and mortality. Using machine learning on plasma levels of 2,917 proteins in the UK Biobank (n = 43,914), we develop a proteomic Smoking Index (pSIN) comprising 51 proteins that accurately distinguish current from never smokers (AUC =...
BiomarkersEpidemiologyRisk factors
10.1038/S41467-025-67656-X
ISSN:2041-1723

Utilizing multimodal cortical parcellations to identify novel regions of the human cerebral cortex associated with substance use disorders

Shizheng QiuZhishuai ZhangJirui GuoYang Hu
Molecular Psychiatry
2025
2025/12/26
00 p.1-13
The shared genetic signals between human cerebral cortex and substance use disorders (SUDs) remain largely unknown. Here, we utilized the Human Connectome Project Multi-Modal Parcellation (HCP-MMP) to divide each hemisphere into 180 regions and investigated the genetic overlap between cortical surfa...
AddictionGenetics
10.1038/S41380-025-03427-W
ISSN:1359-4184

Serum lipid levels and risk of lymphoid malignancies in the UK Biobank study

Sara HermosaYolanda BenaventeElena CabezudoJuan SainzMarta Farràs8
British Journal Of Cancer
2025
2025/9/17
00 p.1-9
Abnormal circulating lipid levels have been suggested in relation to lymphoid malignancy (LM) risk. We studied UK Biobank participants (n = 403,625) with serum data for cholesterol (total [TC], high-density lipoprotein [HDL], direct low-density lipoprotein [LDL]), triglycerides (TG), and apolipoprot...
EpidemiologyPredictive markers
10.1038/S41416-025-03196-X
ISSN:0007-0920

Association between leukocyte telomere length and incident glaucoma: A prospective UK biobank study

Jun YuYuzhou ZhangChi Pui PangClement C. ThamJason C. Yam6
Eye
2025
2025/5/7
00 p.1-7
Leukocyte telomere length (LTL) has been associated with various diseases, including age-related eye diseases such as cataract and age-related macular degeneration. However, the role of LTL in the longitudinal development of glaucoma is still unknown. Here we prospectively evaluate the association o...
Optic nerve diseasesVision disorders
10.1038/S41433-025-03838-7
ISSN:0950-222X

X-chromosome influences on neuroanatomical variation in humans

Travis T. MallardSiyuan LiuJakob SeidlitzZhiwei MaDustin Moraczewski7
Nature Neuroscience
2021
2021/7/22
00 p.1-9
The X-chromosome has long been hypothesized to have a disproportionate influence on the brain based on its enrichment for genes that are expressed in the brain and associated with intellectual disability. Here, we verify this hypothesis through partitioned heritability analysis of X-chromosome influ...
Behavioural geneticsBrainDevelopment of the nervous systemGenetic association studyGenetics of the nervous system
10.1038/S41593-021-00890-W
ISSN:1097-6256

Brain maps of general cognitive functioning: neuroimaging and neurobiological signatures

Joanna E. MoodieColin R. BuchananAnna E. FürtjesEleanor L. S. ConoleAleks Stolicyn16
Translational Psychiatry
2025
2025/10/31
Vol.15 No.1 p.1-20
In this paper, we attempt to answer two questions: 1) which regions of the human brain, in terms of morphometry, are most strongly related to individual differences in domain-general cognitive functioning (g)? and 2) what are the underlying neurobiological properties of those regions? We meta-analys...
Human behaviourMolecular neuroscience
10.1038/S41398-025-03617-8
ISSN:2158-3188

Multi-organ imaging demonstrates the heart-brain-liver axis in UK Biobank participants

McCracken CelesteRaisi-Estabragh ZahraVeldsman MicheleRaman BettyDennis Andrea9
Nature Communications
2022
2022/12/21
Vol.13 No.1 p.1-11
Medical imaging provides numerous insights into the subclinical changes that precede serious diseases such as heart disease and dementia. However, most imaging research either describes a single organ system or draws on clinical cohorts with small sample sizes. In this study, we use state-of-the-art...
BiomarkersEpidemiologyRisk factors
10.1038/S41467-022-35321-2
ISSN:2041-1723

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Hunna J. WatsonZeynep YilmazLaura M. ThorntonChristopher HübelJonathan R. I. Coleman14
Nature Genetics
2019
2019/7/15
Vol.51 No.8 p.1207-1214
Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness1, affecting 0.9–4% of women and 0.3% of men2–4, with twin-based heritability estimates of 50–60%5. Mortality rates are higher than those in other psychiatric disorders6, and outcomes are unacceptably ...
GeneticsMolecular biologyPsychology
10.1038/S41588-019-0439-2
ISSN:1061-4036

Data-driven cluster analysis identifies distinct types of metabolic dysfunction-associated steatotic liver disease

Violeta RaverdyFederica TavaglioneEstelle ChatelainGuillaume LassaillyAntonio De Vincentis32
Nature Medicine
2024
2024/12/9
00 p.1-10
Metabolic dysfunction-associated steatotic liver disease (MASLD) exhibits considerable variability in clinical outcomes. Identifying specific phenotypic profiles within MASLD is essential for developing targeted therapeutic strategies. Here we investigated the heterogeneity of MASLD using partitioni...
Medical researchMetabolic disorders
10.1038/S41591-024-03283-1
ISSN:1078-8956

Multivariate genome-wide analysis of education, socioeconomic status and brain phenome

Frank R. WendtGita A. PathakTodd LenczJohn H. KrystalJoel Gelernter6
Nature Human Behaviour
2020
2020/12/21
00 p.1-15
Socioeconomic status (SES) and education (EDU) are phenotypically associated with psychiatric disorders and behaviours. It remains unclear how these associations influence genetic risk for psychopathology, psychosocial factors and EDU and/or SES (EDU/SES) individually. Using information from >1 mill...
Behavioural geneticsDiseases
10.1038/S41562-020-00980-Y
ISSN:2397-3374

Studying the genetics of participation using footprints left on the ascertained genotypes

Stefania BenonisdottirAugustine Kong
Nature Genetics
2023
2023/7/13
00 p.1-8
The trait of participating in a genetic study probably has a genetic component. Identifying this component is difficult as we cannot compare genetic information of participants with nonparticipants directly, the latter being unavailable. Here, we show that alleles that are more common in participant...
Behavioural geneticsGenome-wide association studies
10.1038/S41588-023-01439-2
ISSN:1061-4036

Robustly measuring multimorbidity using disparate linked datasets

Regina PriggeKelly J. FleetwoodCaroline A. JacksonStewart W. MercerPaul AT Kelly10
Communications Medicine
2025
2025/7/8
Vol.5 No.1 p.1-9
Measurement of multimorbidity, the co-occurrence of two or more conditions in the same individual, is highly variable which limits the consistency and reproducibility of research. Using data from 172,563 UK Biobank (UKB) participants and a cross-sectional approach, we examined how choice of data sou...
DiseasesEpidemiology
10.1038/S43856-025-00995-4
ISSN:2730-664X

No evidence for genotype-treatment interactions with breast cancer endocrine therapy adverse effects in UK Biobank

Kinan MokbelMichael N. WeedonVictoria MoyeKatherine S. RuthLeigh Jackson
Npj Breast Cancer
2026
2026/2/26
Vol.12 No.1 p.530
Breast cancer is the most commonly diagnosed cancer worldwide. Earlier studies have demonstrated that breast cancer patients with particular genomic variants are more susceptible to adverse drug effects (ADEs) when they are receiving endocrine therapy. However, to establish a robust body of evidence...
CancerDiseasesGeneticsOncologyRisk factors
10.1038/S41523-026-00923-2
ISSN:2374-4677

The role of genetic polymorphisms in endolysosomal ion channels TPC2 and P2RX4 in cancer pathogenesis, prognosis, and diagnosis: a genetic association in the UK Biobank

Abeer F. AlharbiJohn Parrington
Npj Genomic Medicine
2021
2021/7/12
Vol.6 No.1 p.1-12
Recent studies have implicated important roles for endolysosomal ion channels in cancer biology. We used UK Biobank data to characterise the relationships between genetic variants in two genes coding for endolysosomal ion channels—i.e. TPCN2 and P2RX4—and cancer in terms of the definition of tumour ...
BiomarkersCancerCancer genomics
10.1038/S41525-021-00221-9
ISSN:2056-7944

Humans with function-disrupting variants in the myostatin gene (MSTN) have increased skeletal muscle mass and strength, and less adiposity

Joseph L. HermanPeter DornbosKarl LandheerBenjamin J. GeraghtyMarc A. Egerman20
Nature Communications
2026
2026/3/13
0
Myostatin negatively regulates skeletal muscle size in multiple species, and therefore, myostatin blockade has been therapeutically explored to promote muscle growth in humans, including to counter the muscle loss seen in obese humans using GLP1R agonists. In this study, we present results from a la...
Heritable quantitative traitMedical genetics
10.1038/S41467-026-70422-2
ISSN:2041-1723

Impact of maternal and offspring smoking and breastfeeding on oesophageal cancer in adult offspring

Yixue WangHongru SunGen LiJingxue XuSiyu Wang12
Nature Communications
2025
2025/1/22
Vol.16 No.1 p.1-13
Numerous risk factors for oesophageal cancer are linked to lifestyle habits, but the role of early-life factors in its incidence and mortality is unclear. Using UK Biobank data, we explore the association among breastfeeding, maternal smoking, smoking in offspring, and oesophageal cancer risk in adu...
CancerPublic health
10.1038/S41467-025-56252-8
ISSN:2041-1723

Testosterone, sex hormone-binding globulin, insulin-like growth factor-1 and endometrial cancer risk: observational and Mendelian randomization analyses

Mullee AmyDimou NikiAllen NaomiO’Mara TracyGunter Marc J.6
British Journal Of Cancer
2021
2021/8/6
00 p.1-10
Dysregulation of endocrine pathways related to steroid and growth hormones may modify endometrial cancer risk; however, prospective data on testosterone, sex hormone-binding globulin (SHBG) and insulin-like growth factor (IGF)−1 are limited. To elucidate the role of these hormones in endometrial can...
Cancer epidemiologyCancer preventionEndometrial cancer
10.1038/S41416-021-01518-3
ISSN:0007-0920

Years since menopause and its metabolomic signature with biological aging in women at midlife: a population-based study

Bo XieMeiling LiQi WangChunying FuXiaoyi Wang6
Npj Aging
2025
2025/7/1
Vol.11 No.1 p.1-10
This study analyzed UK Biobank data from 46,463 postmenopausal women to investigate metabolic changes linked to years since menopause (YSM) and their impact on aging biomarkers. Elastic net regression identified 115 YSM-associated metabolites, forming a metabolic signature strongly correlated with Y...
AgeingBiomarkers
10.1038/S41514-025-00249-6
ISSN:2731-6068

Genomic, phenomic and geographic associations of leukocyte telomere length in the United States

Tetsushi NakaoSatoshi KoyamaBuu TruongMd Mesbah UddinAnika Misra16
Nature Genetics
2026
2026/3/27
00 p.1-10
Leukocyte telomere length (LTL) is associated with multiple conditions, including cardiovascular diseases and neoplasms, yet their differential associations across diverse individuals are largely unknown. We estimated LTL from blood-derived whole-genome sequences in the All of Us research program (n...
EpidemiologyGenetics researchGenome-wide association studies
10.1038/S41588-026-02567-1
ISSN:1061-4036

Prioritization of COVID-19 risk factors in July 2020 and February 2021 in the UK

Tangirala SivatejaTierney Braden T.Patel Chirag J.
Communications Medicine
2023
2023/3/30
Vol.3 No.1 p.1-12
Risk for COVID-19 positivity and hospitalization due to diverse environmental and sociodemographic factors may change as the pandemic progresses. We investigated the association of 360 exposures sampled before COVID-19 outcomes for participants in the UK Biobank, including 9268 and 38,837 non-overla...
Computational biology and bioinformaticsViral infection
10.1038/S43856-023-00271-3
ISSN:2730-664X

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis

Sean WenPablo Kuri-MoralesFengyuan HuAbhishek NagIoanna Tachmazidou25
Nature Genetics
2025
2025/2/13
Vol.57 No.3 p.572-582
The impact of genetic ancestry on the development of clonal hematopoiesis (CH) remains largely unexplored. Here, we compared CH in 136,401 participants from the Mexico City Prospective Study (MCPS) to 416,118 individuals from the UK Biobank (UKB) and observed CH to be significantly less common in MC...
Disease preventionHaematological cancerPopulation genetics
10.1038/S41588-025-02085-6
ISSN:1061-4036

The high-dimensional space of human diseases built from diagnosis records and mapped to genetic loci

Gengjie JiaYu LiXue ZhongKanix WangMilton Pividori20
Nature Computational Science
2023
2023/5/22
Vol.3 No.5 p.403-417
Human diseases are traditionally studied as singular, independent entities, limiting researchers’ capacity to view human illnesses as dependent states in a complex, homeostatic system. Here, using time-stamped clinical records of over 151 million unique Americans, we construct a disease representati...
Genome informaticsMachine learningPredictive medicine
10.1038/S43588-023-00453-Y
ISSN:2662-8457

Rare coding variant analysis for human diseases across biobanks and ancestries

Sean J. JurgensXin WangSeung Hoan ChoiLu-Chen WengSatoshi Koyama25
Nature Genetics
2024
2024/8/29
00 p.1-10
Large-scale sequencing has enabled unparalleled opportunities to investigate the role of rare coding variation in human phenotypic variability. Here, we present a pan-ancestry analysis of sequencing data from three large biobanks, including the All of Us research program. Using mixed-effects models,...
DiseasesDNA sequencingGenetic association study
10.1038/S41588-024-01894-5
ISSN:1061-4036

Neural–genetic–environmental evidence for a disease factor in mental and physical health multimorbidity

Jin ChenYuning ZhangShu LiuMiguel Garcia-ArgibayTianye Jia13
Nature Communications
2025
2025/11/18
Vol.16 No.1 p.100880
Increasing evidence reveals the presence of multimorbidity across physical and mental disorders. A general disease factor (d factor) has been recently identified to capture the shared liability across these conditions, yet its biological basis remains poorly understood. Here, using data from the UK ...
DiseasesGeneticsNeuroscienceRisk factors
10.1038/S41467-025-65055-W
ISSN:2041-1723

Spatial multiomic landscape of the human placenta at molecular resolution

Johain R. OunadjelaKe ZhangKoseki J. Kobayashi-KirschvinkKang JinAndrew J. C. Russell24
Nature Medicine
2024
2024/11/20
00 p.1-14
Successful pregnancy relies directly on the placenta’s complex, dynamic, gene-regulatory networks. Disruption of this vast collection of intercellular and intracellular programs leads to pregnancy complications and developmental defects. In the present study, we generated a comprehensive, spatially ...
OrganogenesisSystems analysis
10.1038/S41591-024-03073-9
ISSN:1078-8956

Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes

Xueqing Zoe ZouFengyuan HuHaiyi LouOliver S. BurrenXiaoyin Li33
Nature
2026
2026/2/4
Vol.652 No.8110 p.675-685
Copy number variants (CNVs) are key drivers of human diversity and disease risk1. Here we evaluate the role of CNVs across a broad range of human phenotypes and diseases by analysing CNVs from 470,727 UK Biobank whole-genome sequences and conducting a variant- and gene-level phenome-wide association...
Genome-wide association studiesPersonalized medicineStructural variationTarget identification
10.1038/S41586-025-10087-X
ISSN:0028-0836

Relationship between HLA genetic variations, COVID-19 vaccine antibody response, and risk of breakthrough outcomes

Junqing XieBeatriz MotheMarta Alcalde HerraizChunxiao LiYu Xu19
Nature Communications
2024
2024/5/13
Vol.15 No.1 p.1-11
The rapid global distribution of COVID-19 vaccines, with over a billion doses administered, has been unprecedented. However, in comparison to most identified clinical determinants, the implications of individual genetic factors on antibody responses post-COVID-19 vaccination for breakthrough outcome...
EpidemiologyGenetics researchSARS-CoV-2
10.1038/S41467-024-48339-5
ISSN:2041-1723

The brain structure, immunometabolic and genetic mechanisms underlying the association between lifestyle and depression

Yujie ZhaoLiu YangBarbara J. SahakianChristelle LangleyWei Zhang13
Nature Mental Health
2023
2023/9/11
00 p.1-15
Lifestyle factors have been acknowledged to be modifiable targets that can be used to counter the increasing prevalence of depression. This study aims to investigate combining an extensive range of lifestyle factors, including alcohol consumption, diet, physical activity, sleep, smoking, sedentary b...
Brain imagingDepressionLifestyle modificationRisk factors
10.1038/S44220-023-00120-1
ISSN:2731-6076

Interpretable machine learning prediction of all-cause mortality

Qiu WeiChen HughDincer Ayse BercesteLundberg ScottKaeberlein Matt6
Communications Medicine
2022
2022/10/3
Vol.2 No.1 p.1-15
Unlike linear models which are traditionally used to study all-cause mortality, complex machine learning models can capture non-linear interrelations and provide opportunities to identify unexplored risk factors. Explainable artificial intelligence can improve prediction accuracy over linear models ...
Computational biology and bioinformaticsEpidemiologyPrognostic markers
10.1038/S43856-022-00180-X
ISSN:2730-664X

How measurement noise limits the accuracy of brain-behaviour predictions

Martin GellSimon B. EickhoffAmir OmidvarniaVincent KüppersKaustubh R. Patil8
Nature Communications
2024
2024/12/12
Vol.15 No.1 p.1-12
Major efforts in human neuroimaging strive to understand individual differences and find biomarkers for clinical applications by predicting behavioural phenotypes from brain imaging data. To identify generalisable and replicable brain-behaviour prediction models, sufficient measurement reliability i...
Human behaviourMachine learningNeuroscience
10.1038/S41467-024-54022-6
ISSN:2041-1723

Mendelian imputation of parental genotypes improves estimates of direct genetic effects

Young Alexander I.Nehzati Seyed MoeenBenonisdottir StefaniaOkbay AysuJayashankar Hariharan10
Nature Genetics
2022
2022/6/9
Vol.54 No.6 p.897-905
Effects estimated by genome-wide association studies (GWASs) include effects of alleles in an individual on that individual (direct genetic effects), indirect genetic effects (for example, effects of alleles in parents on offspring through the environment) and bias from confounding. Within-family ge...
Genome-wide association studiesSoftware
10.1038/S41588-022-01085-0
ISSN:1061-4036

Brain age prediction using deep learning uncovers associated sequence variants

B. A. JonssonG. BjornsdottirT. E. ThorgeirssonL. M. EllingsenG. Bragi Walters9
Nature Communications
2019
2019/11/27
Vol.10 No.1 p.1-10
Machine learning algorithms can be trained to estimate age from brain structural MRI. The difference between an individual’s predicted and chronological age, predicted age difference (PAD), is a phenotype of relevance to aging and brain disease. Here, we present a new deep learning approach to predi...
Genome-wide association studiesMachine learningMagnetic resonance imagingNeural ageing
10.1038/S41467-019-13163-9
ISSN:2041-1723

Plasma proteomic and polygenic profiling improve risk stratification and personalized screening for colorectal cancer

Jing SunYue LiuJianhui ZhaoBin LuSiyun Zhou14
Nature Communications
2024
2024/10/15
Vol.15 No.1 p.1-10
This study aims to identify colorectal cancer (CRC)-related proteomic profiles and develop a prediction model for CRC onset by integrating proteomic profiles with genetic and non-genetic factors (QCancer-15) to improve the risk stratification and estimate of personalized initial screening age. Here,...
CancerEpidemiologyPredictive markers
10.1038/S41467-024-52894-2
ISSN:2041-1723

The left amygdala is genetically sexually-dimorphic: multi-omics analysis of structural MRI volumes

Yuanyuan GuiGeyu ZhouShuya CuiHongyu LiHui Lu6
Translational Psychiatry
2025
2025/1/22
Vol.15 No.1 p.1-7
Brain anatomy plays a key role in complex behaviors and mental disorders that are sexually divergent. While our understanding of the sex differences in the brain anatomy remains relatively limited, particularly of the underlying genetic and molecular mechanisms that contribute to these differences. ...
GeneticsNeuroscience
10.1038/S41398-025-03223-8
ISSN:2158-3188

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

Changhe ShiDongrui MaMengjie LiZhiyun WangChenwei Hao18
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

Association between polygenic propensity for psychiatric disorders and nutrient intake

Hunjan Avina K.Hübel ChristopherLin YuhaoEley Thalia C.Breen Gerome
Communications Biology
2021
2021/8/26
Vol.4 No.1 p.1-9
Despite the observed associations between psychiatric disorders and nutrient intake, genetic studies are limited. We examined whether polygenic scores for psychiatric disorders are associated with nutrient intake in UK Biobank (N = 163,619) using linear mixed models. We found polygenic scores for at...
ADHDBipolar disorderDepressionObsessive compulsive disorderSchizophrenia
10.1038/S42003-021-02469-4
ISSN:2399-3642

Heterogeneous associations of multiplexed environmental factors and multidimensional aging metrics

Fan PuWeiran ChenChenxi LiJingqiao FuWeijing Gao14
Nature Communications
2024
2024/6/10
Vol.15 No.1 p.1-11
Complicated associations between multiplexed environmental factors and aging are poorly understood. We manipulated aging using multidimensional metrics such as phenotypic age, brain age, and brain volumes in the UK Biobank. Weighted quantile sum regression was used to examine the relative individual...
Environmental impactEpidemiologyGeriatricsRisk factors
10.1038/S41467-024-49283-0
ISSN:2041-1723

Unraveling the causal genes and transcriptomic determinants of human telomere length

Ying ChangYao ZhouJunrui ZhouWen LiJiasong Cao24
Nature Communications
2023
2023/12/21
Vol.14 No.1 p.1-15
Telomere length (TL) shortening is a pivotal indicator of biological aging and is associated with many human diseases. The genetic determinates of human TL have been widely investigated, however, most existing studies were conducted based on adult tissues which are heavily influenced by lifetime exp...
Genetic association studyRisk factorsTranscriptomics
10.1038/S41467-023-44355-Z
ISSN:2041-1723

Genetic influence on within-person longitudinal change in anthropometric traits in the UK Biobank

Kathryn E. KemperJulia SidorenkoHuanwei WangBen J. HayesNaomi R. Wray9
Nature Communications
2024
2024/5/6
Vol.15 No.1 p.1-11
The causes of temporal fluctuations in adult traits are poorly understood. Here, we investigate the genetic determinants of within-person trait variability of 8 repeatedly measured anthropometric traits in 50,117 individuals from the UK Biobank. We found that within-person (non-directional) variabil...
Genetic association studyGenomicsHeritable quantitative trait
10.1038/S41467-024-47802-7
ISSN:2041-1723

Wearable device-based health equivalence of different physical activity intensities against mortality, cardiometabolic disease, and cancer

Raaj Kishore BiswasMatthew N. AhmadiAdrian BaumanKaren MiltonNicholas A. Koemel6
Nature Communications
2025
2025/10/7
Vol.16 No.1 p.1-8
Current conventions, partly derived from self-reported data, typically equate 1 minute of vigorous physical activity (VPA) to 2 minutes of moderate physical activity (MPA). Using accelerometer-derived intensity classification in 73,485 UK Biobank participants (mean follow-up: 8.0 [1.0] years), we as...
DiseasesRisk factors
10.1038/S41467-025-63475-2
ISSN:2041-1723

Phenotypic covariance across the entire spectrum of relatedness for 86 billion pairs of individuals

Kathryn E. KemperLoic YengoZhili ZhengAbdel AbdellaouiMatthew C. Keller9
Nature Communications
2021
2021/2/16
Vol.12 No.1 p.1-11
Attributing the similarity between individuals to genetic and non-genetic factors is central to genetic analyses. In this paper we use the genomic relationship ( $$\pi$$ ) among 417,060 individuals to investigate the phenotypic covariance between pairs of individuals for 32 traits across the spectru...
GenomicsHeritable quantitative traitQuantitative traitStatistical methods
10.1038/S41467-021-21283-4
ISSN:2041-1723

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

Pavel LoginovicFeiyi WangJiang LiLauric FerratUyenlinh L. Mirshahi15
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

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

Praveen KavitaDobbyn LeeGurski LaurenAyer Ariane H.Staples Jeffrey25
Communications Biology
2022
2022/6/3
Vol.5 No.1 p.1-12
To better understand the genetics of hearing loss, we performed a genome-wide association meta-analysis with 125,749 cases and 469,497 controls across five cohorts. We identified 53/c loci affecting hearing loss risk, including common coding variants in COL9A3 and TMPRSS3. Through exome sequencing o...
Genome-wide association studiesInner ear
10.1038/S42003-022-03408-7
ISSN:2399-3642

Changes in physical activity and adiposity with all-cause, cardiovascular disease, and cancer mortality

Ahmadi Matthew N.Lee I-MinHamer Markdel Pozo Cruz BorjaChen Li Jung9
International Journal Of Obesity
2022
2022/8/1
00 p.1-10
The relationship between joint changes in physical activity and adiposity with mortality is not well understood. We examined the association of changes in these two established risk factors with all-cause (ACM), cardiovascular disease (CVD), and cancer mortality. We used longitudinal data from Taiwa...
DiseasesRisk factors
10.1038/S41366-022-01195-Z
ISSN:0307-0565

Effect of genetically predicted sclerostin on cardiovascular biomarkers, risk factors, and disease outcomes

Marta Alcalde-HerraizJunQing XieDanielle NewbyClara PratsDipender Gill9
Nature Communications
2024
2024/11/13
Vol.15 No.1 p.1-12
Sclerostin inhibitors protect against osteoporotic fractures, but their cardiovascular safety remains unclear. We conducted a cis-Mendelian randomisation analysis to estimate the causal effect of sclerostin levels on cardiovascular risk factors. We meta-analysed three GWAS of sclerostin levels inclu...
Genetic markersGenetic variation
10.1038/S41467-024-53623-5
ISSN:2041-1723

Genome-wide copy number variation association study in anorexia nervosa

Alicia WalkerRobert KarlssonJin P. SzatkiewiczLaura M. ThorntonZeynep Yilmaz40
Molecular Psychiatry
2024
2024/11/12
00 p.1-8
This study represents the first large-scale investigation of rare (<1% population frequency) copy number variants (CNVs) in anorexia nervosa (AN). Large, rare CNVs are reported to be causally associated with anthropometric traits, neurodevelopmental disorders, and schizophrenia, yet their role in...
GeneticsPsychology
10.1038/S41380-024-02811-2
ISSN:1359-4184

Proteomics signature of moderate-to-vigorous physical activity and risk of multimorbidity of cancer and cardiometabolic diseases

Michael J. SteinHansjörg BaurechtPatricia BohmannReynalda CordovaPietro Ferrari16
Communications Medicine
2026
2026/3/13
Vol.6 No.1 p.1600
Moderate-to-vigorous physical activity (MVPA) is inversely associated with risks of cancer, cardiovascular diseases (CVD), type 2 diabetes (T2D), and their co-occurrence, defined as multimorbidity; however, the underlying biological pathways remain unclear. In 33,806 UK Biobank participants with 291...
Cancer epidemiologyPredictive markersType 2 diabetes
10.1038/S43856-026-01514-9
ISSN:2730-664X

Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy

Caibo NingLinyun FanMeng JinWenji WangZhiqiang Hu35
Nature Communications
2023
2023/11/30
Vol.14 No.1 p.1-15
Left ventricular regional wall thickness (LVRWT) is an independent predictor of morbidity and mortality in cardiovascular diseases (CVDs). To identify specific genetic influences on individual LVRWT, we established a novel deep learning algorithm to calculate 12 LVRWTs accurately in 42,194 individua...
Cardiac hypertrophyCardiovascular geneticsMagnetic resonance imagingPredictive markers
10.1038/S41467-023-43771-5
ISSN:2041-1723

Long-term obesity impacts brain morphology, functional connectivity and cognition in adults

Die ZhangChenye ShenNanguang ChenChaoqiang LiuJun Hu8
Nature Mental Health
2025
2025/3/3
00 p.1-13
Although obesity has been implicated in brain and cognitive health, the effect of longitudinal obesity trajectories on brain and cognitive aging remains insufficiently understood. Here, using multifaceted obesity measurements from the UK Biobank, we identified five distinct obesity trajectories: low...
Neural ageingPredictive markers
10.1038/S44220-025-00396-5
ISSN:2731-6076

Measurement and initial characterization of leukocyte telomere length in 474,074 participants in UK Biobank

Codd V.Denniff M.Swinfield C.Warner S. C.Papakonstantinou M.23
Nature Aging
2022
2022/2/17
Vol.2 No.2 p.170-179
Leukocyte telomere length (LTL) is a proposed marker of biological age. Here we report the measurement and initial characterization of LTL in 474,074 participants in UK Biobank. We confirm that older age and male sex associate with shorter LTL, with women on average ~7 years younger in ‘biological a...
Predictive markers
10.1038/S43587-021-00166-9
ISSN:2662-8465

FAM13A affects body fat distribution and adipocyte function

Mohsen FathzadehJiehan LiAbhiram RaoNaomi CookIndumathi Chennamsetty25
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

Organ-specific proteomic aging clocks predict disease and longevity across diverse populations

Yunhe WangSihao XiaoBowen LiuRongtao JiangYuxi Liu25
Nature Aging
2025
2025/11/26
00 p.1-19
Aging and age-related diseases share convergent pathways at the proteome level. Here, using plasma proteomics and machine learning, we developed organismal and ten organ-specific aging clocks in the UK Biobank (n = 43,616) and validated their high accuracy in cohorts from China (n = 3,977) and the U...
AgeingEndocrine system and metabolic diseasesNeurological disordersPredictive markersPsychiatric disorders
10.1038/S43587-025-01016-8
ISSN:2662-8465

Identifying and ranking non-traditional risk factors for cardiovascular disease prediction in people with type 2 diabetes

Katarzyna DziopaNishi ChaturvediFolkert W. AsselbergsAmand F. Schmidt
Communications Medicine
2025
2025/3/14
Vol.5 No.1 p.1-8
Cardiovascular disease (CVD) prediction models perform poorly in people with type 2 diabetes (T2DM). We aimed to identify potentially non-traditional CVD predictors for six facets of CVD (including coronary heart disease, ischemic stroke, heart failure, and atrial fibrillation) in people with T2DM. ...
CardiologyCardiovascular diseasesDisease preventionMetabolic disorders
10.1038/S43856-025-00785-Y
ISSN:2730-664X

Population-scale sequencing resolves determinants of persistent EBV DNA

Sherry S. NyeoErin M. CummingOliver S. BurrenMeghana S. PagadalaJacob C. Gutierrez20
Nature
2026
2026/1/28
Vol.650 No.8102 p.664-672
Epstein–Barr virus (EBV) is an endemic herpesvirus implicated in autoimmunity, cancer and neurological disorders. Although primary infection is often subclinical, persistent EBV infection can drive immune dysregulation and long-term complications. Despite the ubiquity of infection, the determinants ...
Genome-wide association studiesImmunogeneticsPathogensPopulation geneticsViral infection
10.1038/S41586-025-10020-2
ISSN:0028-0836

RSPO3 is important for trabecular bone and fracture risk in mice and humans

Nilsson Karin H.Henning PetraShahawy Maha ElNethander MariaAndersen Thomas Levin21
Nature Communications
2021
2021/8/13
Vol.12 No.1 p.1-18
With increasing age of the population, countries across the globe are facing a substantial increase in osteoporotic fractures. Genetic association signals for fractures have been reported at the RSPO3 locus, but the causal gene and the underlying mechanism are unknown. Here we show that the fracture...
BoneOsteoblasts
10.1038/S41467-021-25124-2
ISSN:2041-1723

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

Asmundur OddssonPatrick SulemGardar SveinbjornssonGudny A. ArnadottirValgerdur Steinthorsdottir75
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

Investigating causal networks of dementia using causal discovery and natural language processing models

Xinzhu YuArtitaya LophatananonVivien HolmesKenneth R. MuirHui Guo
Npj Dementia
2025
2025/5/9
Vol.1 No.1 p.40
Comprehensively studying modifiable risk factors to understand their contributions to dementia mechanisms is imperative. This study used natural language processing (NLP) models to pre-select candidate risk factors for dementia from 5505 baseline variables in the UK Biobank. We then applied causal d...
DementiaEpidemiology
10.1038/S44400-025-00006-2
ISSN:3005-1940

Rare coding variants in CHRNB3 associate with reduced daily cigarette smoking across ancestries

Veera M. RajagopalAndrey ZiyatdinovTyler JosephAriane AyerMohsin Ahmed27
Nature Communications
2026
2026/2/24
Vol.17 No.1 p.16540
Rare coding variants that alter protein function and confer beneficial health effects can suggest potential drug targets. CHRNB3 encodes the β3 subunit of nicotinic acetylcholine receptors that bind nicotine and mediate its action in the brain. Here we report an exome-wide association study of numbe...
Behavioural geneticsDNA sequencingGenome-wide association studies
10.1038/S41467-026-68825-2
ISSN:2041-1723

Association of physical activity pattern and risk of Parkinson’s disease

Fabin LinYixiang LinLina ChenTingting HuangTianxin Lin11
Npj Digital Medicine
2024
2024/5/23
Vol.7 No.1 p.1-7
Increasing evidence suggests an association between exercise duration and Parkinson’s disease. However, no high-quality prospective evidence exists confirming whether differences exist between the two modes of exercise, weekend warrior and equal distribution of exercise duration, and Parkinson’s ris...
Parkinson's diseaseRisk factors
10.1038/S41746-024-01135-3
ISSN:2398-6352

Performance of deep-learning-based approaches to improve polygenic scores

Martin KelemenYu XuTao JiangJing Hua ZhaoCarl A. Anderson8
Nature Communications
2025
2025/6/2
Vol.16 No.1 p.1-9
Polygenic scores, which estimate an individual’s genetic propensity for a disease or trait, have the potential to become part of genomic healthcare. Neural-network based deep-learning has emerged as a method of intense interest to model complex, nonlinear phenomena, which may be adapted to exploit g...
EpistasisPersonalized medicineRisk factors
10.1038/S41467-025-60056-1
ISSN:2041-1723

Genome-wide association studies of COVID-19 vaccine seroconversion and breakthrough outcomes in UK Biobank

Marta Alcalde-HerraizMartí CatalàAlbert Prats-UribeRoger ParedesJunQing Xie6
Nature Communications
2024
2024/10/9
Vol.15 No.1 p.1-10
Understanding the genetic basis of COVID-19 vaccine seroconversion is crucial to study the role of genetics on vaccine effectiveness. In our study, we used UK Biobank data to find the genetic determinants of COVID-19 vaccine-induced seropositivity and breakthrough infections. We conducted four genom...
EpidemiologyGenetics researchViral infection
10.1038/S41467-024-52890-6
ISSN:2041-1723

Clinical biomarker-based biological aging and risk of cancer in the UK Biobank

Mak Jonathan K. L.McMurran Christopher E.Kuja-Halkola RalfHall PerCzene Kamila7
British Journal Of Cancer
2023
2023/4/29
00 p.1-10
Despite a clear link between aging and cancer, there has been inconclusive evidence on how biological age (BA) may be associated with cancer incidence. We studied 308,156 UK Biobank participants with no history of cancer at enrolment. Using 18 age-associated clinical biomarkers, we computed three BA...
BiomarkersCancer epidemiologyEpidemiology
10.1038/S41416-023-02288-W
ISSN:0007-0920

Deciphering the role of complement system genes in pancreatic cancer susceptibility and prognosis

Alberto LangtryRaul RabadanLola AlonsoIoan FilipSergio Sabroso-Lasa137
Nature Communications
2025
2025/11/28
Vol.16 No.1 p.107690
Pancreatic ductal adenocarcinoma (PDAC) genetic susceptibility is partially identified. The complement system (CS) influences carcinogenesis and participates in immunological defense and homeostasis; however, its role in PDAC genetic susceptibility and prognosis is underexplored. The association of ...
Cancer epidemiologyComplement cascadeGenetics researchPancreatic cancerPrognostic markers
10.1038/S41467-025-65811-Y
ISSN:2041-1723

Neuroimaging and multiomics reveal cross-scale circuit abnormalities in schizophrenia

Meng WangHao YanXiaohan TianWeihua YueYong Liu30
Nature Mental Health
2023
2023/8/28
00 p.1-22
Schizophrenia (SCZ) is a highly heterogeneous disorder with diverse clinical manifestations and macro- and microscale biological variations, usually observed at dissociable levels. Here we propose a cross-scale, circuit-based framework to connect heterogeneous clinical symptoms, large-scale brain ci...
Data integrationFunctional magnetic resonance imagingMagnetic resonance imagingSchizophrenia
10.1038/S44220-023-00110-3
ISSN:2731-6076

The UK Biobank resource with deep phenotyping and genomic data

Clare BycroftColin FreemanDesislava PetkovaGavin BandLloyd T. Elliott19
Nature
2018
2018/10/10
Vol.562 No.7726 p.203-209
The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data collected on approximately 500,000 individuals from across the United Kingdom, aged between 40 and 69 at recruitment. The open resource is unique in its size and scope. A rich variety of phenotypic and health-...
GenomeGenome-wide association studiesGenotypeHaplotypesPopulation genetics
10.1038/S41586-018-0579-Z
ISSN:0028-0836

Shared heritability of human face and brain shape

Sahin NaqviYoeri SleypHanne HoskensKarlijne IndencleefJeffrey P. Spence19
Nature Genetics
2021
2021/4/5
00 p.1-10
Evidence from model organisms and clinical genetics suggests coordination between the developing brain and face, but the role of this link in common genetic variation remains unknown. We performed a multivariate genome-wide association study of cortical surface morphology in 19,644 individuals of Eu...
EpigenomicsGenome-wide association studiesNeurogenesis
10.1038/S41588-021-00827-W
ISSN:1061-4036

An observational and genetic investigation into the association between psoriasis and risk of malignancy

Ruolin LiWenjin LuoXiangjun ChenQinglian ZengShumin Yang8
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

Modifiable influencing factors and their joint effects on early- and late-onset coronary heart disease

Jianhui GuoPetros KoutrakisCarolina L. Zilli VieiraYi FanYaqi Wang10
Nature Communications
2025
2025/12/8
Vol.16 No.1 p.109300
Over the past decade, the previously declining trend in coronary heart disease burden has reversed, particularly among younger adults. Using an exposure-wide association study with data from 394,579 UK Biobank participants, we examined the relationship between 213 modifiable factors across eight dom...
Genetic testingLifestyle modificationRisk factors
10.1038/S41467-025-65963-X
ISSN:2041-1723

Investigating the impact of poverty on mental illness in the UK Biobank using Mendelian randomization

Mattia MarchiAnne AlkemaCharley XiaChris H. L. ThioLi-Yu Chen13
Nature Human Behaviour
2024
2024/7/10
00 p.1-13
It is unclear whether poverty and mental illness are causally related. Using UK Biobank and Psychiatric Genomic Consortium data, we examined evidence of causal links between poverty and nine mental illnesses (attention deficit and hyperactivity disorder (ADHD), anorexia nervosa, anxiety disorder, au...
EconomicsHuman behaviourPsychiatric disordersRisk factors
10.1038/S41562-024-01919-3
ISSN:2397-3374

The burden of rare protein-truncating genetic variants on human lifespan

Liu Jimmy Z.Chen Chia-YenTsai Ellen A.Whelan Christopher D.Sexton David7
Nature Aging
2022
2022/3/3
00 p.1-6
Genetic predisposition has been shown to contribute substantially to the age at which we die. Genome-wide association studies (GWASs) have linked more than 20 loci to phenotypes related to human lifespan1. However, little is known about how lifespan is impacted by gene loss of function. Through whol...
AgeingCancer modelsRare variants
10.1038/S43587-022-00182-3
ISSN:2662-8465

Multi-cohort high-dimensional proteomics reveals early risk markers for lymphoid cancer subtypes

P. Martijn KolijnKarl Smith-ByrneVernon BurkVivian ViallonMatthew A. Lee22
Nature Communications
2025
2025/10/28
Vol.16 No.1 p.1-14
This study aims to investigate the early stages of lymphoid malignancy pathogenesis and identify pre-diagnostic proteomic markers for lymphoma. Using the SomaScan-7K platform, we analyze 6412 unique plasma proteins in a case-cohort study nested within the European Prospective Investigation into Canc...
B-cell lymphomaMyelomaPrognostic markersProteomic analysis
10.1038/S41467-025-64534-4
ISSN:2041-1723

Branched chain amino acids harbor distinct and often opposing effects on health and disease

Christy L. AveryAnnie Green HowardHarold H. LeeCarolina G. DownieMoa P. Lee13
Communications Medicine
2023
2023/11/28
Vol.3 No.1 p.1-8
The branched chain amino acids (BCAA) leucine, isoleucine, and valine are essential nutrients that have been associated with diabetes, cancers, and cardiovascular diseases. Observational studies suggest that BCAAs exert homogeneous phenotypic effects, but these findings are inconsistent with results...
Genome-wide association studiesPredictive markers
10.1038/S43856-023-00382-X
ISSN:2730-664X

Rare coding variants in CHRNB2 reduce the likelihood of smoking

Veera M. RajagopalKyoko WatanabeJoelle MbatchouAriane AyerPeter Quon40
Nature Genetics
2023
2023/6/12
00 p.1-11
Human genetic studies of smoking behavior have been thus far largely limited to common variants. Studying rare coding variants has the potential to identify drug targets. We performed an exome-wide association study of smoking phenotypes in up to 749,459 individuals and discovered a protective assoc...
Behavioural geneticsDrug discoveryPopulation genetics
10.1038/S41588-023-01417-8
ISSN:1061-4036

A method to estimate the contribution of rare coding variants to complex trait heritability

Nazia PathanWei Q. DengMatteo Di ScipioMohammad KhanShihong Mao10
Nature Communications
2024
2024/2/9
Vol.15 No.1 p.1-16
It has been postulated that rare coding variants (RVs; MAF < 0.01) contribute to the “missing” heritability of complex traits. We developed a framework, the Rare variant heritability (RARity) estimator, to assess RV heritability (h2RV) without assuming a particular genetic architecture. We applie...
Diagnostic markersMedical genomicsNext-generation sequencingRare variantsStatistical methods
10.1038/S41467-024-45407-8
ISSN:2041-1723

Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories

Lali RickyChong MichaelOmidi ArghavanMohammadi-Shemirani PedrumLe Ann7
Nature Communications
2021
2021/10/6
Vol.12 No.1 p.1-15
Rare variants are collectively numerous and may underlie a considerable proportion of complex disease risk. However, identifying genuine rare variant associations is challenging due to small effect sizes, presence of technical artefacts, and heterogeneity in population structure. We hypothesize that...
Genetic predisposition to diseaseNext-generation sequencingRare variantsStatistical methods
10.1038/S41467-021-26114-0
ISSN:2041-1723

Associations of intakes of total protein, protein from dairy sources, and dietary calcium with risks of colorectal, breast, and prostate cancer: a prospective analysis in UK Biobank

Cody Z. WatlingRebecca K. KellyYashvee DunneramAnika KnuppelCarmen Piernas9
British Journal Of Cancer
2023
2023/7/5
00 p.1-12
Evidence concerning intakes of protein or sources of dairy protein and risks of colorectal, breast, and prostate cancers is inconclusive. Using a subsample of UK Biobank participants who completed ≥2 (maximum of 5) 24-h dietary assessments, we estimated intakes of total protein, protein from total d...
OncologyRisk factors
10.1038/S41416-023-02339-2
ISSN:0007-0920

Realistic morphology-preserving generative modelling of the brain

Petru-Daniel TudosiuWalter H. L. PinayaPedro Ferreira Da CostaJessica DafflonAshay Patel12
Nature Machine Intelligence
2024
2024/7/15
Vol.6 No.7 p.811-819
Medical imaging research is often limited by data scarcity and availability. Governance, privacy concerns and the cost of acquisition all restrict access to medical imaging data, which, compounded by the data-hungry nature of deep learning algorithms, limits progress in the field of healthcare AI. G...
Computer scienceTranslational research
10.1038/S42256-024-00864-0
ISSN:2522-5839

Comparative effectiveness of the BNT162b2 and ChAdOx1 vaccines against Covid-19 in people over 50

Xie JunqingFeng ShuoLi XintongGea-Mallorquí EsterPrats-Uribe Albert6
Nature Communications
2022
2022/3/21
Vol.13 No.1 p.1-8
Although pivotal trials with varying populations and study methods suggest higher efficacy for mRNA than adenoviral Covid-19 vaccines, not many studies have directly compared vaccine effectiveness in the population. Here, we conduct a head-to-head comparison of BNT162b2 versus ChAdOx1 against Covid-...
EpidemiologySARS-CoV-2VaccinesViral infection
10.1038/S41467-022-29159-X
ISSN:2041-1723

The spatial correspondence and genetic influence of interhemispheric connectivity with white matter microstructure

Jeroen MollinkStephen M. SmithLloyd T. ElliottMichiel KleinnijenhuisMarlies Hiemstra10
Nature Neuroscience
2019
2019/4/15
Vol.22 No.5 p.809-819
Microscopic features (that is, microstructure) of axons affect neural circuit activity through characteristics such as conduction speed. To what extent axonal microstructure in white matter relates to functional connectivity (synchrony) between brain regions is largely unknown. Using MRI data in 11,...
GeneticsNeuroscience
10.1038/S41593-019-0379-2
ISSN:1097-6256

Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions

Fulya AkçimenMonica Diez-FairenIgnacio AlvarezVictor PuenteSpencer Grant26
Npj Genomic Medicine
2026
2026/4/9
0
Chorea can arise from genetic, metabolic, pharmacologic, and autoimmune causes. In clinical practice, however, non-genetic causes are rare. The most common genetic cause is a CAG repeat expansion in HTT, leading to Huntington’s disease (HD). Beyond HD, systematic studies have been lacking and many i...
DiseasesGeneticsNeurology
10.1038/S41525-026-00567-Y
ISSN:2056-7944

Wearable-device-measured physical activity and future health risk

Tessa StrainKatrien WijndaelePaddy C. DempseyStephen J. SharpMatthew Pearce9
Nature Medicine
2020
2020/8/17
Vol.26 No.9 p.1385-1391
Use of wearable devices that monitor physical activity is projected to increase more than fivefold per half-decade1. We investigated how device-based physical activity energy expenditure (PAEE) and different intensity profiles were associated with all-cause mortality. We used a network harmonization...
EpidemiologyRisk factors
10.1038/S41591-020-1012-3
ISSN:1078-8956