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UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

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Thompson, Deborah J., Wells, Daniel, Selzam, Saskia, Peneva, Iliana, Moore, Rachel, Sharp, Kevin, Tarran, William A., Beard, Edward J., Riveros-Mckay, Fernando, Giner-Delgado, Carla, Palmer, Duncan, Seth, Priyanka, Harrison, James, Futema, Marta, Genomics England Research Consortium, McVean, Gil, Plagnol, Vincent, Donnelly, Peter, Weale, Michael E.·2022·medRxiv

DOI 10.1101/2022.06.16.22276246

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Abstract

We present and assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in UKB. We also release a benchmarking software tool to enable like-for-like performance evaluation for different PRSs for the same disease or trait. Extensive benchmarking shows the PRSs in the UKB Release to outperform a broad set of 81 published PRSs. For many of the diseases and traits we also validate the PRS algorithms in other cohorts. The availability of PRSs for 53 traits on the same set of individuals also allows a systematic assessment of their properties, and the increased power of these PRSs increases the evidence for their potential clinical benefit.

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10.1136/bmj.k1687 · DOI
10.1093/jnci/djw177 · DOI
10.1101/2021.09.02.21262942 · DOI

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Zhang, J., Luo, L., Chen, G., Ai, B., Wu, G., Gao, Y., Lip, G. Y. H., Lin, H., & Chen, Y. (2024) · The Science of The Total Environment · doi:10.1016/j.scitotenv.2024.175710 · Cited by 18
All of Us diversity and scale improve polygenic prediction contextually with greatest improvements for under-represented populationsPreprint
Tsuo, K., Shi, Z., Ge, T., Mandla, R., Hou, K., Ding, Y., Paşaniuc, B., Wang, Y., & Martin, A. R. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.08.06.606846 · Cited by 20
“Briefly, we projected all AoU individuals into the PC space using pre-estimated weights of 168,899 variants 20 from the Human Genome Diversity Panel (HGDP) 52 and 1000 Genomes Project 53 .”
Association between polygenic risk for schizophrenia and retinal morphology: A cross-sectional analysis of the United Kingdom Biobank.
Blose, B. A., Silverstein, S. M., Stuart, K., Keane, P., Khawaja, A., & Wagner, S. (2024) · Psychiatry Research · doi:10.1016/j.psychres.2024.116106 · Cited by 16
“Description of the GWAS data, details of the meta-analysis, and PRS calculation are described in (Thompson et al., 2022).”
MethodInfluential
MSGene: a multistate model using genetic risk and the electronic health record applied to lifetime risk of coronary artery disease
Urbut, S., Yeung, M., Khurshid, S., Cho, S. J., Schuermans, A., German, J., Taraszka, K., Paruchuri, K., Fahed, A., Ellinor, P., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-49296-9 · Cited by 16
“Data supporting these scores were entirely from external GWAS data (the Standard PRS set) as conducted by Genomics PLC (Oxford, UK) under UKB project 9659 45 .”
Influential
Plasma Proteomic Insights for Identification of Novel Predictors and Potential Drug Targets in Atrial Fibrillation: A Prospective Cohort Study and Mendelian Randomization Analysis
Peng, X.-D., Li, Y.-K., Liu, N., Xia, S., Li, X., Lai, Y., He, L., Sang, C., Dong, J.-Z., & Ma, C.-S. (2024) · Circulation: Arrhythmia and Electrophysiology · doi:10.1161/circep.124.013037 · Cited by 14
Proteomic prediction of common and rare diseasesPreprint
Carrasco-Zanini, J., Pietzner, M., Davitte, J., Surendran, P., Croteau-Chonka, D., Robins, C., Torralbo, A., Tomlinson, C., Fitzpatrick, N., Ytsma, C., et al. (2023) · medRxiv · doi:10.1101/2023.07.18.23292811 · Cited by 14
Alzheimer’s Disease polygenic risk, the plasma proteome, and dementia incidence among UK older adults
Beydoun, M. A., Beydoun, H. A., Li, Z., Hu, Y., Hooten, N. N., Ding, J., Hossain, S. A., Vieytes, C. A. M., Launer, L. J., Evans, M. K., et al. (2024) · GeroScience · doi:10.1007/s11357-024-01413-8 · Cited by 15
“…GWAS summary statistics that were either completely extracted from external GWAS data (the Standard PRS set) or from a combination of external and internal UK Biobank data (the Enhanced PRS set) using a Bayesian approach[24], found in: https:// www. medrx iv. org/ conte nt/https:// doi. org/ 10.”
Influential
Association of psychosocial state with subsequent risk of dementia: a prospective cohort study based on the UK Biobank
Wang, H., Wang, J., Zeng, Y., Yang, H., Chen, W., Shen, Q., & Song, H. (2024) · Alzheimer s Research & Therapy · doi:10.1186/s13195-024-01592-8 · Cited by 13
“The polygenic risk score (PRS) combining multiple risk genes for AD provides a quantitative measure of the genetic risk of dementia [24].”
BackgroundMethod
Latent profiles of modifiable dementia risk factors in later midlife: relationships with incident dementia, cognition, and neuroimaging outcomes
Xiong, L. Y., Alexander, M. W., Wong, Y. Y., Wu, C., Ruthirakuhan, M. T., Edwards, J. D., Lanctôt, K. L., Black, S. E., Rabin, J. S., Cogo‐Moreira, H., et al. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02685-4 · Cited by 16
“PRS values were centered and standardized to produce a corrected PRS value [27].”
Evaluation of polygenic score for hypertrophic cardiomyopathy in the general population and across clinical settings
Zheng, S.-L., Jurgens, S., McGurk, K. A., Xu, X., Grace, C., Theotokis, P., Buchan, R., Francis, C., de Marvao, A., Curran, L., et al. (2023) · medRxiv · doi:10.1101/2023.03.14.23286621 · Cited by 13
Self-citation
Prognostic evaluation of polygenic risk score underlying pan-cancer analysis: evidence from two large-scale cohorts
Xin, J., Jiang, X., Li, H., Chen, S., Zhang, Z., Wang, M., Gu, D., Du, M., & Christiani, D. C. (2023) · EBioMedicine · doi:10.1016/j.ebiom.2023.104454 · Cited by 22
Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction
Yiangou, K., Mavaddat, N., Dennis, J., Zanti, M., Wang, Q., Bolla, M. K., Abubakar, M., Ahearn, T. U., Andrulis, I. L., Anton‐Culver, H., et al. (2024) · Breast Cancer Research · doi:10.1186/s13058-024-01947-x · Cited by 24
“We also evaluated a “standard” breast cancer PRS available in the UK Biobank data, previously generated from external GWAS data [35] and was available for 222,989 individuals (Table S1B).”
Intake of Added Sugar from Different Sources and Risk of All-Cause Mortality and Cardiovascular Diseases: The Role of Body Mass Index
Shi, Z., Zhu, W., Lei, Z., Yan, X., Zhang, X., Wei, S., & Wang, Q. (2024) · Journal of Nutrition · doi:10.1016/j.tjnut.2024.09.017 · Cited by 15
Adding salt to foods and risk of psoriasis: A prospective cohort study.
Zhou, G.-W., Gan, L., Zhao, B., Fang, F., Liu, H., Chen, X., & Huang, J.-Q. (2024) · Journal of Autoimmunity · doi:10.1016/j.jaut.2024.103259 · Cited by 12
Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations
Topriceanu, C., Chaturvedi, N., Mathur, R., & Garfield, V. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-023-01517-3 · Cited by 12
“In general, UK Biobank standard and enhanced PGSs had markedly better performance in White Europeans compared to South Asians and African Caribbeans when evaluating cardiometabolic phenotypes.”
BackgroundMethodInfluential
Associations of combined polygenic risk score and glycemic status with atrial fibrillation, coronary artery disease and ischemic stroke
Kim, J., Kim, D., Bae, H., Park, B., Kang, T. S., Lim, S., Lee, S. Y., Chung, Y. H., Ryu, J. W., Lee, M., et al. (2024) · Cardiovascular Diabetology · doi:10.1186/s12933-023-02021-0 · Cited by 12
“Details for generating the PRS have been previously described [25].”
MethodInfluential
Metabolic profiling of frailty, associations with type 2 diabetes and interaction with genetic susceptibility
Wang, Y.-X., Chen, S., Li, Y., Lu, Q., Li, R., Chen, J.-X., Zhang, J.-J., Yu, H., Xu, H., Xie, J.-C., et al. (2025) · Cardiovascular Diabetology · doi:10.1186/s12933-025-02776-8 · Cited by 11
“The UK Biobank PRS scores were generated using a Bayesian approach applied to meta-analyzed summary statistics from external genome-wide association studies (GWAS) [19], and have been widely adopted in studies utilizing UK Biobank data [20, 21].”
Associations between serum lipids and glaucoma: a cohort study of 400 229 UK Biobank participants
Ma, Y., Wu, Y., Hu, L., Chen, W., Zhang, X., Zheng, D., Congdon, N. G., Jin, G., & Liu, Z. (2025) · British Journal of Ophthalmology · doi:10.1136/bjo-2024-326062 · Cited by 11
“16 In this study, we used the enhanced polygenic risk score for HDL-C, LDL-C, TC, and TG to examine the associations between genetic determinants of serum lipid and glaucoma.”
Serum albumin, genetic susceptibility, and risk of venous thromboembolism
Sun, Y.-Y., Deng, J., Ding, Y.-J., Luo, S., Li, S., Guan, Y., Cao, X., Hao, X.-J., & Hu, Y. (2024) · Research and Practice in Thrombosis and Haemostasis · doi:10.1016/j.rpth.2024.102509 · Cited by 11
“The weights utilized in the PRS model were obtained from a meta-analysis conducted on 4 independent VTE GWAS datasets, which comprised 29,799 cases and 475,303 controls from the Electronic Medical Records and Genomics cohorts [22].”
Method
Combining rare and common genetic variants improves population risk stratification for breast cancer
Bolze, A., Kiser, D., Barrett, K. S. S., Elhanan, G., Blitstein, J. M. S., Neveux, I., Dabe, S., Reed, H., Anderson, A., Metcalf, W., et al. (2023) · medRxiv · doi:10.1016/j.gimo.2024.101826 · Cited by 11
FairPRS: adjusting for admixed populations in polygenic risk scores using invariant risk minimization
Reyes, D. M., Bose, A., Karavani, E., & Parida, L. (2022) · Pacific Symposium on Biocomputing (PSB) · doi:10.1142/9789811270611_0019 · Cited by 6
“23 The fact that improvement in accuracy did not come at the expense of either group is reassuring, suggesting FairPRS is safe in the sense it might not cause more harm than using regular PRS.”
Grip strength, genetic predisposition, and Incident Parkinson’s disease: a prospective cohort study in the UK Biobank
Hu, W., Zhao, C.-H., Huang, Y., Liu, B.-P., & Jia, C.-X. (2024) · npj Parkinson s Disease · doi:10.1038/s41531-024-00810-2 · Cited by 13
“More detailed information on the PRS can be found in previous studies 25 – 27 .”
Method
Maternal smoking, nutritional factors at different life stage, and the risk of incident type 2 diabetes: a prospective study of the UK Biobank
Jiang, W., Tang, Y., Yang, R., Long, Y., Sun, C., Han, T., & Wei, W. (2024) · BMC Medicine · doi:10.1186/s12916-024-03256-8 · Cited by 12
“Moreover, we also included the genetic risk score of HbA1c based on the initial release of PRS in the UK biobank [23].”
Method
Association between pre-dementia psychiatric diagnoses and all-cause dementia is independent from polygenic dementia risks in the UK Biobank
Freudenberg‐Hua, Y., Li, W., Lee, U. J., Ma, Y., Koppel, J. L., & Goate, A. (2024) · EBioMedicine · doi:10.1016/j.ebiom.2024.104978 · Cited by 8
“36 We obtained these PRS for AD from the UKB data-ﬁ eld 26,206.”
Method
Alzheimer’s disease polygenic risk’s association with all-cause dementia through the plasma metabolome in the UK Biobank study
Beydoun, M. A., Hu, Y., Li, Z., Georgescu, M. F., Beydoun, H. A., Hooten, N. N., Walker, K. A., Bouhrara, M., Launer, L. J., Evans, M. K., et al. (2025) · GeroScience · doi:10.1007/s11357-025-01724-4 · Cited by 9
“The Standard PRS set was extracted from external GWAS data, while the Enhanced PRS set combined genetic risk from external and internal sources to the UK Biobank data[14, 15].”
Variants in LPA are associated with Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project.
Bird, M., Rimbert, A., Pittman, A. M., Humphries, S., & Futema, M. (2024) · European Journal of Preventive Cardiology · doi:10.1093/eurjpc/zwae371 · Cited by 9
“All recruiting clinicians were affiliated with one of the Genomic Medical Centres, and all were experts in the field of lipidology with extensive experience in the identification and management of individuals with FH. Study participants were assigned Human Phenotype Ontology (HPO) terms at the time of recruitment to 1…”
InfluentialSelf-citation
AgeML: Age Modeling With Machine Learning
Condado, J. G., Elorriaga, I. T., Cortés, J. M., & Erramuzpe, A. (2025) · IEEE Journal of Biomedical and Health Informatics · doi:10.1109/jbhi.2025.3531017 · Cited by 11
“Participants with multiple comorbidities were excluded to mitigate potential mixed effects.”
Mediterranean diet, metabolic signature, genetic predisposition, and risk of rheumatoid arthritis: a large-scale population-based prospective cohort study
Song, X. Y., Ma, X., Yang, B., Zhang, D., Zou, Y., Lei, B., Xiang, R., Zhao, X., Qu, Y., Zheng, S., et al. (2025) · American Journal of Clinical Nutrition · doi:10.1016/j.ajcnut.2025.09.051 · Cited by 8
“The polygenic risk score (PRS) for RA was derived from validated “ Standard PRS (Category 301) ” provided in the UK Biobank Release [26,27].”
Longitudinal association of cumulative risk factors in early life, genetic risk, and healthy lifestyles during adulthood with the risk of type 2 diabetes
Hu, J., Yang, H., Liu, Y., Lu, Z., Zhang, X., Yang, H. J., Yang, Z., Wang, X., Liu, B., Cui, H., et al. (2025) · BMC Medicine · doi:10.1186/s12916-025-04025-x · Cited by 9
“Detailed information regarding access to these PRS data and GWAS resources can be found in an earlier study [21].”
Polygenic score analysis identifies distinct genetic risk profiles in Alzheimer’s disease comorbidities
Hernández, C. F., Villamán, C., Leu, C., Lal, D., Mata, I. F., Klein, A. D., & Pérez‐Palma, E. (2025) · Scientific Reports · doi:10.1038/s41598-025-95755-8 · Cited by 9
Domestic water hardness, genetic risk, and distinct phenotypes of cardiovascular disease
Tian, F., Yu, G.-F., Yang, M.-Y., Sun, Y., Gui, Z., Zhao, X.-Y., Wang, N., Wan, H., & Peng, X. (2025) · Environmental Health · doi:10.1186/s12940-025-01166-7 · Cited by 8
“The genetic risk score for AF, CHD, and stroke was based on the standard polygenic risk score (PRS, field ID 26212, 26227, and 26248 in UK Biobank, respectively) supported by external genome-wide association studies data [16].”
Increased sodium consumption is associated with psoriasis: A population‐based cohort study
Chattopadhyay, A., Ye, M., Chiang, B. M., Halezeroğlu, Y., Blarigan, E. L. V., Liao, W. J., Bhutani, T., & Abuabara, K. (2025) · Journal of the European Academy of Dermatology and Venereology · doi:10.1111/jdv.20540 · Cited by 9
“…tested for effect modification by polygenic risk score, leveraging a psoriasis standard polygenic risk score available in UK Biobank that was previously developed from four genome-wide association studies, 31 and we examined results stratified by polygenic risk score quintile based on prior work.”
HbA1c and the Risk of Lower Limb Ulcers Among Diabetic Patients: An Observational and Genetics Study
Guo, G., Guan, Y., Chen, Y., Ye, Y., Gan, Z., Cao, X., Chen, Z., & Hao, X. (2025) · Journal of Diabetes Research · doi:10.1155/jdr/4744194 · Cited by 10
“As described previously, the standard PRS of HbA1c was calculated as the genome-wide sum of the per-variant e ﬀ ect size multiplied by allele dosage [32].”
Association of healthy lifestyle factors and genetic liability with bipolar disorder: Findings from the UK Biobank
Li, G., He, Q., Sun, M., Ma, Z., Zhao, H., Wang, Y., Feng, Z., Li, T., Chu, J., Hu, W., et al. (2024) · Journal of Affective Disorders · doi:10.1016/j.jad.2024.08.011 · Cited by 10
Spatial distribution of residential environment, genetic susceptibility, and psoriasis: A prospective cohort study
Chen, L., Chen, H., Mo, L., He, M., Zhao, Y., Tan, T., Yao, P., Tang, Y.-H., Li, X.-Z., & Li, Y.-Y. (2024) · Journal of Global Health · doi:10.7189/jogh.14.04139 · Cited by 8
“Another possible approach was to retrieve the psoriasis-related PRS variable directly from the UK Biobank (variable number 26269) [20].”
Background
Life’s essential 8, genetic susceptibility, and risk of inflammatory bowel diseases: a population-based cohort study
Yang, H.-H., Chang, Q., Ji, C., Zheng, G., Ma, Z., Chen, L., Xia, Y., & Zhao, Y.-H. (2024) · International Journal of Behavioral Nutrition and Physical Activity · doi:10.1186/s12966-024-01617-3 · Cited by 8
“The polygenic risk scores (PRS) were calculated by the UK Biobank team [22].”
Method
Association of Blood Pressure With Brain Ages: A Cohort Study of Gray and White Matter Aging Discrepancy in Mid-to-Older Adults From UK Biobank
Du, J., Pan, Y., Jiang, J.-Y., Liu, Y., Lam, B. C. P., Schutte, A., Tsang, I., Sachdev, P. S., & Wen, W. (2024) · HYPERTENSION · doi:10.1161/hypertensionaha.123.22176 · Cited by 8
Dietary carbohydrate types, genetic predisposition, and risk of adult-onset asthma: A longitudinal cohort study
Zhang, H., Zhang, X., Yang, H., Yang, H., Zhang, T., Chen, L., Zhao, Y., & Xia, Y. (2024) · International Journal of Biological Macromolecules · doi:10.1016/j.ijbiomac.2024.129824 · Cited by 9
Long-term exposure to ambient benzene and incident type 2 diabetes mellitus in a national cohort: The modifying effect of genetic susceptibility
Xiao, Z., Li, Q., Guo, X., Long, G., Meng, Z., & Xu, C. Y. (2025) · Environmental Research · doi:10.1016/j.envres.2025.122197 · Cited by 9
Combining polygenic and clinical risk scores in atrial fibrillation risk prediction: Implications for population screening
Segan, L. A., Ho, W. W. H., Crowley, R. F., William, J., Cho, K. K., Prabhu, S., Chieng, D., Sugumar, H., Voskoboinik, A., Ling, L., et al. (2025) · Heart Rhythm · doi:10.1016/j.hrthm.2025.04.032 · Cited by 12
Plasma protein-based and polygenic risk scores serve complementary roles in predicting inflammatory bowel disease
Woerner, J., Westbrook, T. M., Jeong, S., Shivakumar, M., Greenplate, A., Apostolidis, S. A., Lee, S., Nam, Y., & Kim, D. (2024) · Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · doi:10.1142/9789819807024_0037 · Cited by 7
“The PRS model was based on scores from Thompson et al., 30 which were added as predictors to an unpenalized logistic regression with the covariates.”
Association of obesity and metabolic syndrome with incident primary open angle glaucoma in the UK Biobank
Macri, C., Wong, C. X., Tu, S., Sun, D. F., Casson, R. J., Singh, K., Wang, S. Y., & Sun, M. T. (2024) · Clinical and Experimental Ophthalmology · doi:10.1111/ceo.14467 · Cited by 7
Daytime napping and the incidence of Parkinson’s disease: a prospective cohort study with Mendelian randomization
Lin, F., Shi, Y., Song, W., Weng, Y., Zou, X., Chen, X., Zheng, J., Chen, K., Ye, Q., Wu, X., et al. (2024) · BMC Medicine · doi:10.1186/s12916-024-03497-7 · Cited by 8
“We here used the standard PRS for PD released by the UK Biobank (Field ID: 26,260), which was extracted from an external GWAS meta-analysis dataset, as described by Thompson et al. [25]; these authors had calculated PRS for 28 diseases and 25 quantitative traits.”
Method
Associations between dietary one-carbon metabolism nutrients, genetic risk, with Alzheimer's disease: a prospective cohort study.
Wang, Y.-S., Mi, N., Liao, K., Li, Y., Sun, Y., Xie, P., Hu, L., Wu, S., Liang, Z.-X., He, Q., et al. (2024) · American Journal of Clinical Nutrition · doi:10.1016/j.ajcnut.2024.08.027 · Cited by 7
Night shift work and myocardial infarction in the UK Biobank
Yang, M. J., Jia, Z. W., Wang, E., Li, J., Tang, A. M., Song, Z., & Zhang, Z. (2024) · Occupational Medicine · doi:10.1093/occmed/kqae045 · Cited by 7
Green space, genetic susceptibility, and risk of osteoporosis:a cohort study from the UK Biobank.
Yao, X.-I., Tong, X., Shen, C., Song, Y., Sun, S.-Z., Chen, K., & Shen, H. (2024) · Chemosphere · doi:10.1016/j.chemosphere.2024.141632 · Cited by 7
Association of Cardiovascular Health with the Incidence of Venous Thromboembolism: A Prospective Study of 275,149 Participants from the UK Biobank
Liang, B., Zha, L., Peng, B., Chen, Q., Juaiti, M., Zeng, X., Feng, Y., Yu, Z., & Tang, Y. (2024) · Thrombosis and Haemostasis · doi:10.1055/a-2305-6631 · Cited by 9
“16 We found that there were some overlapping pathogenic SNPs between our PRS model and previously published PRS models, such as classical FVLeidenmutation(rs6025),prothrombinG20210Amutation (rs1799963), and ﬁ brinogen gamma chain mutation (rs2066865).”
Gattaca as a lens on contemporary genetics: marking 25 years into the film’s “not-too-distant” future
Ogbunugafor, C. B., & Edge, M. D. (2022) · Genetics · doi:10.1093/genetics/iyac142 · Cited by 8
“…human height, a titanic meta-analysis of 5.4 million people has led to a genetic predictor—i.e. a “polygenic score” (see Box 2 for background) (Torkamani et al. 2018; Thompson et al. 2022)—that explains 40% of the variance in height in a sample of people of European ancestries (Yengo et al. 2022).”
Influential
Associations of eight insulin resistance-related indices and genetic risk with incident cardiometabolic multimorbidity among participants with hypertension: a large prospective cohort study
Ma, S., Jiang, M., Xuan, Y., Shen, Y., Chen, K., & Li, B. (2026) · Cardiovascular Diabetology · doi:10.1186/s12933-026-03154-8 · Cited by 8
“The UK Biobank has made available standard polygenic risk scores (PRSs) for 53 diseases and traits, which provide strong capacity for risk stratification [59].”
Characterizing spatiotemporal white matter hyperintensity pathophysiology in vivo to disentangle vascular and neurodegenerative contributionsPreprint
Parent, O., Alasmar, Z., Osborne, S., Bussy, A., Costantino, M., Fouquet, J. P., Quesada, D., Pastor-Bernier, A., Fajardo-Valdez, A., Binette, A. P., et al. (2025) · medRxiv · doi:10.1101/2025.06.10.25329342 · Cited by 6
“41,76 We used the standard PRS calculated on all UK Biobank participants.”
Ultra-Processed Food Consumption and the Risk of Psoriasis: A Large Prospective Cohort Study
Peng, X., Li, X.-Z., He, J., He, M., Ning, N., Chen, L., Yao, P., Tang, Y.-H., & Li, Y.-Y. (2025) · Nutrients · doi:10.3390/nu17091473 · Cited by 6
Plasma proteomic signatures for type 2 diabetes and related traits in the UK Biobank cohort
Gupte, T. P., Azizi, Z., Kho, P. F., Zhou, J., Nzenkue, K., Chen, M., Panyard, D. J., Guarischi‐Sousa, R., Hilliard, A. T., Sharma, D., et al. (2024) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2025.112194 · Cited by 11
Accelerated biological aging and risk of inflammatory bowel disease: A prospective study from 401,013 participants
Cao, B., Zhao, X., Lu, Z., & Zhang, H. (2025) · The journal of nutrition health & aging · doi:10.1016/j.jnha.2025.100505 · Cited by 8
Understanding the causes and consequences of low statin adherence: evidence from UK Biobank primary care data
Türkmen, D., Liang, X., Masoli, J. A. H., Gill, D., Pilling, L. C., & Bowden, J. (2025) · BMC Medicine · doi:10.1186/s12916-025-04228-2 · Cited by 6
“We also included polygenic scores (PGS) derived by Genomics PLC [25] (UKB category 301): 8 PGS for relevant biomarkers and patient characteristics (e.g. LDL-c, BMI) and 28 PGS for genetic liability to disease (e.g. CVD, schizophrenia).”

Authors: Thompson, D. J., Wells, D., Selzam, S., Peneva, I., Moore, R., Sharp, K., Tarran, W. A., Beard, E. J., Riveros-Mckay, F., Giner-Delgado, C., Palmer, D., Seth, P., Harrison, J., Futema, M., Genomics England Research Consortium, McVean, G., Plagnol, V., Donnelly, P., & Weale, M. E.
Affiliations: Genomics (United Kingdom) (GB)
St George's, University of London (GB)
Corresponding author: Weale, Michael E.
ORCID: Thompson, Deborah J.
Wells, Daniel
Selzam, Saskia
Moore, Rachel
Sharp, Kevin
Tarran, William A.
Beard, Edward J.
Riveros-Mckay, Fernando
Giner-Delgado, Carla
Palmer, Duncan
Seth, Priyanka
Futema, Marta
McVean, Gil
Plagnol, Vincent
Donnelly, Peter
Weale, Michael E.
Venue: medRxiv
Publisher: openRxiv
Published: 2022-06-16
DOI: 10.1101/2022.06.16.22276246
OpenAlex: W4283067507
Cited by: 280
References: 41
Citations by year: 2026: 47 · 2025: 84 · 2024: 109 · 2023: 32 · 2022: 8
Type: posted content
Language: en
Open access: green
doi.org
Licence: cc-by
Locations: medRxiv (acceptedVersion, cc-by)
Funders: Medical Research Council (MC_PC_17228)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: polygenic risk score, UK Biobank, disease risk prediction, quantitative traits, genetic risk prediction, clinical utility

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UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

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