The DOI matches its Crossref record; 37 of the 41 references it cites were found in a registry or an index.
UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits
Open accessAbstract
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The PRS was derived using external Genome-wide association study (GWAS) training data and has been validated for its association with Late-Onset Alzheimer’s Disease (LOAD) within the UKB.80”
From TET2-mutant myeloid cells mitigate Alzheimer’s disease progression via CNS infiltration and enhanced phagocytosis in mice (2025) · cites this paper as [80]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The UK Biobank resource with deep phenotyping and genomic data
Bycroft, C., Freeman, C., Petkova, D., Band, G., Elliott, L. T., Sharp, K., Motyer, A., Vukcevic, D., Delaneau, O., O’Connell, J., et al. (2018) · Nature · doi:10.1038/s41586-018-0579-z · Cited by 8,876
Self-citationFry, A., Littlejohns, T. J., Sudlow, C., Doherty, N., Adamska, L., Sprosen, T., Collins, R., & Allen, N. E. (2017) · American Journal of Epidemiology · doi:10.1093/aje/kwx246 · Cited by 3,979
Khera, A. V., Chaffin, M., Aragam, K. G., Haas, M. E., Roselli, C., Choi, S. H., Natarajan, P., Lander, E. S., Lubitz, S. A., Ellinor, P. T., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0183-z · Cited by 2,953
Clinical use of current polygenic risk scores may exacerbate health disparities
Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M., & Daly, M. J. (2019) · Nature Genetics · doi:10.1038/s41588-019-0379-x · Cited by 2,821
The personal and clinical utility of polygenic risk scores
Torkamani, A., Wineinger, N. E., & Topol, E. J. (2018) · Nature Reviews Genetics · doi:10.1038/s41576-018-0018-x · Cited by 1,655 · cited 1×
“Throughout, we use: (1) PRS score, or just PRS, for the score assigned to a particular individual; (2) PRS algorithm for the function which calculates the PRS score from genetic data on an individual; and (3) PRS methodology for the approach used to determine a particular PRS algorithm.”
MethodPolygenic risk scores: from research tools to clinical instruments
Lewis, C. M., & Vassos, E. (2020) · Genome Medicine · doi:10.1186/s13073-020-00742-5 · Cited by 1,360 · cited 1×
“Throughout, we use: (1) PRS score, or just PRS, for the score assigned to a particular individual; (2) PRS algorithm for the function which calculates the PRS score from genetic data on an individual; and (3) PRS methodology for the approach used to determine a particular PRS algorithm.”
MethodAnalysis of polygenic risk score usage and performance in diverse human populations
Duncan, L., Shen, H., Gelaye, B., Meijsen, J., Ressler, K., Feldman, M., Peterson, R., & Domingue, B. (2019) · Nature Communications · doi:10.1038/s41467-019-11112-0 · Cited by 1,038
Improving reporting standards for polygenic scores in risk prediction studies
Wand, H., Lambert, S. A., Tamburro, C. P., Iacocca, M. A., O’Sullivan, J. W., Sillari, C. H., Kullo, I. J., Rowley, R. K., Dron, J. S., Brockman, D., et al. (2021) · Nature · doi:10.1038/s41586-021-03243-6 · Cited by 484
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Fahed, A. C., Wang, M., Homburger, J. R., Patel, A. P., Bick, A. G., Neben, C. L., Lai, C., Brockman, D., Philippakis, A., Ellinor, P. T., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17374-3 · Cited by 459
Genetic identification of familial hypercholesterolemia within a single U.S. health care system
Abul-Husn, N. S., Manickam, K., Jones, L. K., Wright, E. A., Hartzel, D. N., Gonzaga-Jauregui, C., O’Dushlaine, C., Leader, J. B., Lester Kirchner, H., Lindbuchler, D. M., et al. (2016) · Science · doi:10.1126/science.aaf7000 · Cited by 425
Flagged first, then by citations
4 of the 41 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Items 101–200 of 239
Ma, T., Zhu, C., Cheng, X.-J., Huang, Y.-F., Li, J.-C., Tan, Y., & Bai, Y. (2025) · JACC: Basic to Translational Science · doi:10.1016/j.jacbts.2024.10.012 · Cited by 6
Zhao, Y., Song, Y., Li, X., & Guo, A. (2024) · Breast Cancer Research · doi:10.1186/s13058-024-01877-8 · Cited by 6
“The baseline characteristics of the included participants are presented as mean (standard deviation, SD) for continuous variables and number and percentage for categorical variables according to LE8 scores (low, moderate, and high).”
RetractedAssociation between Physical Activity and Parkinson’s Disease: A Prospective Cohort Study
Zhang, Q., Shi, M., Zhang, J., Yin, X., Chen, Y., Wang, X., & Zhang, Y. (2024) · Neuroepidemiology · doi:10.1159/000540397 · Cited by 6
“PRS for PD was of fi cially released by UK Biobank and details about the PRS calculation have been published elsewhere [22].”
Zhang, F., Liu, Y., Yang, C., Wang, F., & Zhang, L. (2024) · Environmental Research Letters · doi:10.1088/1748-9326/ad2676 · Cited by 8
“Enhanced PRS was calculated for 104 231 individuals in the UKB testing subgroup, in which the PRS algorithm has been trained on both external data and an additional training data from a subset of UKB data [20].”
MethodPopulation clustering of structural brain aging and its association with brain development
Duan, H., Shi, R.-Y., Kang, J.-J., Banaschewski, T., Bokde, A. L. W., Büchel, C., Desrivières, S., Flor, H., Grigis, A., Garavan, H., et al. (2024) · medRxiv · doi:10.1101/2024.01.09.24301030 · Cited by 6
Zhao, R., Kundu, P., Saha, A., & Chatterjee, N. (2023) · doi:10.48550/arxiv.2312.12786 · Cited by 6
“…body mass index (BMI), height, low-density lipoprotein (LDL)), health and medical history, family history (e.g., mother or father’s disease history), sex-specific factors (e.g., number of births for female participants), and polygenic risk scores released by UK Biobank (Thompson et al., 2022).”
InfluentialNon-coding rare variant associations with blood traits on 166 740 UK Biobank genomesPreprint
Ribeiro, D. M., & Delaneau, O. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.12.01.569422 · Cited by 7
“For this, we gathered publicly available PGS measurements for UK Biobank individuals across three traits (HDL cholesterol, LDL cholesterol and HbA1c) 46 .”
MethodMicrosatellites used in forensics are in regions enriched for trait-associated variants
Link, V., Zavaleta, Y. J. A., Reyes, R.-J., Ding, L., Wang, L., Rohlfs, R. V., & Edge, M. D. (2023) · iScience · doi:10.1016/j.isci.2023.107992 · Cited by 12
“The ability to predict a trait from genotype is limited by the trait’s heritability,(35) and for a wide range of complex traits, the best current predictions from even genome-wide SNP data are not particularly accurate.(36) A small set of STRs will not outperform genome-wide SNPs at phenotype prediction except in rare…”
BackgroundAssociation between falls and dementia risk: Evidence from three cohort studies
Li, A., Zhou, S., Chang, J., Wei, T., Zhao, B., Zhao, Y., Wang, Z., Xing, Y., & Tang, Y. (2025) · Journal of Translational Internal Medicine · doi:10.1515/jtim-2025-0057 · Cited by 4
“[24] A PRS for AD and dementia was derived from AD data and included common genetic variants linked to AD and dementia.”
Yu, J. Q., Zhang, Y., Ho, M., Kam, K. W., Rong, S. S., Young, A. L., Pang, C. P., Tham, C. C. Y., Yam, J. C. S., & Chen, L. J. (2025) · Medicine Bulletin · doi:10.1002/mdb2.70008 · Cited by 5
Seum, T., Cardoso, R., Stevenson-Hoare, J., Holleczek, B., Schöttker, B., Hoffmeister, M., & Brenner, H. (2025) · BMC Medicine · doi:10.1186/s12916-025-04107-w · Cited by 5
Zhang, Z., Wang, C., Zhao, L. Y., Wang, Z., Zhou, X., Yang, W., & Meng, X. (2025) · Diabetes Obesity and Metabolism · doi:10.1111/dom.16293 · Cited by 7
Kianersi, S., Potts, K. S., Wang, H., Sofer, T., Noordam, R., Rutter, M. K., Redline, S. S., & Huang, T. (2025) · International Journal of Obesity · doi:10.1038/s41366-025-01768-8 · Cited by 5
“We conducted three sensitivity analyses: 1) to understand the potential impact of unmeasured or unknown confounders on the observed associations, we estimated E-values for analyses on incident obesity [45, 46]; 2) to further understand the impact of irregular sleep duration on more extreme BMI…”
Gupte, T. P., Azizi, Z., Kho, P. F., Zhou, J., Chen, M., Panyard, D. J., Guarischi‐Sousa, R., Hilliard, A. T., Sharma, D., Watson, K. T., et al. (2024) · medRxiv · doi:10.1101/2024.09.13.24313652 · Cited by 2
“Lastly, we considered 36 standard polygenic risk scores (PRSs) calculated with genome wide data on DNA sequence variation, summarizing the genetic predisposition or liability to 36 health traits or disease conditions 14,15 .”
BackgroundMethodShen, C., Tong, X., Ran, J., Sun, S.-Z., Yang, Q., Shen, H., & Yao, X.-I. (2024) · Schizophrenia Research · doi:10.1016/j.schres.2024.06.008 · Cited by 5
Lin, F., Shi, Y., Zheng, J., Li, Y., Chen, X., Zou, X., Hong, Y., Chen, K., Zeng, Y., Ye, Q., et al. (2024) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2023.1304629 · Cited by 8
Family History of AD /Dementia, Polygenic Risk Score for AD , and Parkinson's Disease
Xu, X., Li, Y., Wang, J., Cao, Y., Feng, C., Guo, Y. H., Zong, G., Sun, L., & Gao, X. (2023) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.13919 · Cited by 6
Polygenic risk scores and risk stratification in deep vein thrombosis.
Faro, V. L., Johansson, T., Hoglund, J., Hadizadeh, F., & Johansson, Å. (2023) · Thrombosis Research · doi:10.1016/j.thromres.2023.06.011 · Cited by 5
A Bayesian framework for longitudinal EHR and genetic discovery
Urbut, S., Ding, Y., Nakao, T., Koyama, S., Misra, A., Jiang, X., Harish, A., Gaffney, L., Hornsby, W., Smoller, J. W., et al. (2026) · Nature · doi:10.1038/s41586-026-10780-5 · Cited by 5
“PRSs were obtained from an external set of controls 28 .”
InfluentialKianersi, S., Potts, K. S., Wang, H., Sofer, T., Noordam, R., Rutter, M. K., Rexrode, K., Redline, S. S., & Huang, T. (2026) · Journal of the American Heart Association · doi:10.1161/jaha.125.044189 · Cited by 8
Li, S.-C., Zhou, H.-W., Chen, J.-J., Xian, W.-P., Zhang, Y.-Q., & Wang, Y. (2025) · American Journal of Clinical Nutrition · doi:10.1016/j.ajcnut.2025.10.004 · Cited by 4
Genetic Modifiers of Parkinson's Disease: A Case–Control Study
Kmiecik, M. J., Holmes, M. V., Fontanillas, P., Riboldi, G. M., Schneider, R. B., Shi, J., Guan, A. S., Tat, S. A., Micheletti, S. J., Stagaman, K., et al. (2025) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.70176 · Cited by 6
“To define PD penetrance incident to genetic exposure, we analyzed participants with preexisting and incident diagnoses of PD [15, 33, 34].”
A review of methods and software for polygenic risk score analysis
Benoumhani, S., Alwabil, A., Imam, N. H., Alfawaz, B., Zubairi, A., Aldossary, D., & Eissa, M. A. (2025) · PeerJ Computer Science · doi:10.7717/peerj-cs.3039 · Cited by 4
Dietary sugar intake, genetic susceptibility, and risk of dementia: A prospective cohort study
An, Y., Cao, L., Zheng, G., Liu, Y., Yang, H., Chen, L., Zhao, Y., Zhang, X., & Xia, Y. (2025) · The Journal of Prevention of Alzheimer s Disease · doi:10.1016/j.tjpad.2025.100312 · Cited by 4
“Detailed information on the PRS can be found elsewhere [33].”
AoUPRS: A cost-effective and versatile PRS calculator for the All of Us Program
Khattab, A., Chen, S., Wineinger, N. E., & Torkamani, A. (2025) · BMC Genomics · doi:10.1186/s12864-025-11693-9 · Cited by 12
“Polygenic risk score (PRS) analysis has been extensively conducted in other large, accessible databases such as the UK Biobank [3], demonstrating the clinical validity of PRSs [4].”
Accelerometer‐derived “weekend warrior” and regularly active physical activity and incident diabetes
Lei, L., Li, J., Wang, W., Zhang, L., Meng, X., Xia, C., Li, Y., Zhao, Y., Yuan, X., Wang, X., et al. (2025) · Obesity · doi:10.1002/oby.24278 · Cited by 3
Chen, S., Li, J., Man, Q., Hu, C., Li, J., Wang, J., Wu, S., Xu, K., Cui, M., Zhang, T., et al. (2024) · Journal of the American Heart Association · doi:10.1161/jaha.124.035900 · Cited by 5
Jain, V., Dabbs‐Brown, A., Liu, C., Hui, Q., Mehta, A., Wilson, P. W. F., Quyyumi, A. A., & Sun, Y. V. (2024) · Journal of the American Heart Association · doi:10.1161/jaha.123.034132 · Cited by 5
Plasma proteomics-based brain aging signature and incident dementia risk
Kou, M., Ma, H., Wang, X., Heianza, Y., & Qi, L. (2024) · GeroScience · doi:10.1007/s11357-024-01407-6 · Cited by 5
“The PRS for AD was generated using a Bayesian approach applied to meta-analyzed summary statistics GWAS data entirely from external GWAS data and released by Thompson et al. [22].”
Dadu, A., Ta, M., Tustison, N., Daneshmand, A., Marek, K., Singleton, A. B., Campbell, R. H., Nalls, M., Iwaki, H., Avants, B., et al. (2024) · medRxiv · doi:10.1101/2024.10.27.24316215 · Cited by 4
Genetic and early life factors influence on time-to-multiple sclerosis diagnosis: A UK Biobank study
Nova, A., Caprio, G. D., Bernardinelli, L., & Fazia, T. (2024) · Multiple Sclerosis Journal · doi:10.1177/13524585241257205 · Cited by 5
“Similarly, compared with an average BMI-PRS, only higher values showed a significantly increased MS hazard.”
InfluentialMicrosatellites used in forensics are located in regions unusually rich in trait-associated variantsPreprint
Link, V., Zavaleta, Y. J. A., Reyes, R.-J., Ding, L., Wang, J., Rohlfs, R., & Edge, M. D. (2023) · bioRxiv · doi:10.1101/2023.03.07.531629 · Cited by 4
“The ability to predict a trait from genotype is limited by the trait’s heritability (Visscher et al., 2008), and for a wide range of complex traits, the best current predictions from genome-wide SNP data are not particularly accurate (Thompson et al., 2022).”
Xiao, Z., Huang, S., Zhao, K., Zhang, X., Li, Z., Li, R., Yao, M., Li, S., & Xu, C. (2025) · Ecotoxicology and Environmental Safety · doi:10.1016/j.ecoenv.2025.118198 · Cited by 4
Circulating fatty acids, genetic susceptibility and hypertension: a prospective cohort study
Lu, L., Gu, X., Yang, D., Wang, B., & Long, G. (2024) · Frontiers in Nutrition · doi:10.3389/fnut.2024.1454364 · Cited by 3
Plasma proteomics and carotid intima-media thickness in the UK biobank cohort
Chen, M., Kho, P. F., Guarischi‐Sousa, R., Zhou, J., Panyard, D. J., Azizi, Z., Gupte, T. P., Watson, K. T., Abbasi, F., & Assimes, T. L. (2024) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2024.1478600 · Cited by 3
Zhang, N., Liu, D., Zhao, J., Tse, G., Zhou, J., Zhang, Q., Lip, G. Y. H., & Liu, T. (2024) · Heart Rhythm · doi:10.1016/j.hrthm.2024.10.028 · Cited by 4
Tyrer, J., Peng, P., DeVries, A., Gayther, S., Jones, M. R., & Pharoah, P. (2024) · BMC Genomics · doi:10.1186/s12864-024-10706-3 · Cited by 3
“Recently, a UK Biobank Poly-genic Risk Score (PRS) method has been released as a resource of polygenic scores across many diseases and traits, with benchmarking of multiple PGS algorithms or published PGSs [35] against this new method.”
MethodGuan, Y., Gan, Z., Li, S., Cao, X., Zeng, A., Li, J., Gong, W., Deng, J., & Hao, X.-J. (2024) · Thrombosis and Haemostasis · doi:10.1055/a-2495-1350 · Cited by 3
Park, H., Kim, D., You, S. C., Jang, E., Yu, H. T., Kim, T., Kim, D., Sung, J., Pak, H., Lee, M., et al. (2024) · Journal of the American Heart Association · doi:10.1161/jaha.123.032831 · Cited by 4
Choice of phenotype scale is critical in biobank-based G×E testsPreprint
Costantino, M., Fonseca, R., Liu, Z.-T., Huang, Z., Sankararaman, S., Mathieson, I., & Dahl, A. W. (2026) · bioRxiv · doi:10.64898/2026.01.20.694695 · Cited by 2
“We tested for PGS×E interactions between 5 environmental variables (E) and 36 polygenic sores that were computed from GWAS that do not include UKB individuals ( Table S3 ) (31).”
Association of genetic predisposition to dyslipidemia and physical activity with incident dementia
Liang, Y., Xie, S., Sheng, D., Ding, L., Yang, T., & Jia, J. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71079 · Cited by 2
“The development, validation, and performance of these PRS are described in detail by Thompson et al. 21,22 In brief, the Standard Set PRS were constructed to be fully independent of the UK Biobank cohort.”
Yang, Q.-M., Lu, Y.-F., Jiang, X., Hu, H.-M., Lu, X.-F., & Guo, C. (2026) · Open Heart · doi:10.1136/openhrt-2025-003827 · Cited by 2
“Nested case–control sampling with a 1:9 case- to-control ratio was then conducted separately within the training and test splits, with controls Cardiac risk factors and prevention selected only from participants in the same split.”
Breast cancer risk during oral contraceptive use in women with high polygenic risk
Chatsatourian, C., Faro, V. L., Karlsson, T., Hadizadeh, F., & Johansson, Å. (2025) · Breast Cancer Research · doi:10.1186/s13058-025-02177-5 · Cited by 2
“Briefly, the standard PRS used in our study was constructed using GWAS sum-mary statistics from cohorts that did not overlap with UK Biobank as described previously [19] and validated and benchmarked in relation to other PRSs [20].”
Allostatic load and risk of prostate cancer in UK Biobank
Shen, J., Guan, Y.-F., Fuemmeler, B. F., Shock, L. S., & Zhao, H. (2025) · Scientific Reports · doi:10.1038/s41598-025-21510-8 · Cited by 2
“Details of how to generate PRS have been previously described by Thompson et al. 18 .”
Kong, Y., Zhong, J.-P., Wang, T., & Zhang, D.-F. (2025) · Molecular Nutrition & Food Research · doi:10.1002/mnfr.70252 · Cited by 2
“PRS combines genome-wide genetic risk information to give a personalized measure of genetic disease liability [33].”
Kianersi, S., Potts, K. S., Wang, H.-M., Sofer, T., Noordam, R., Rutter, M. K., Rexrode, K. M., Redline, S., & Huang, T.-Y. (2025) · Research Square · doi:10.21203/rs.3.rs-6718332/v1 · Cited by 2
“A previously conducted study generated a polygenic risk score (PRS) for CVD and made it available in the UKB, with increased PRS scores indicating a higher CVD risk (44, 45).”
Wang, W.-X., Ren, R. C., Liu, Y., Ye, X., Zhang, R., Li, X., Wang, L., Zhang, Y., Zhang, Y., & Wang, D. (2025) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.66.4.54 · Cited by 2
Calculating maternal polygenic risk scores from prenatal screening by cell-free DNA data
Corey, V., Chavez, M., Qasim, L., Dincer, T., Henry, A., Bagayan, S., Treadup, S., Mehan, M., de Feo, E., & Kim, S. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1495604 · Cited by 2
“Large databases, like the United Kingdom Biobank, have enabled the dissection, evaluation and validation of PRS in concert with genome-wide association studies across many complex traits and diseases (Thompson et al., 2022).”
Hua, R., Lam, C. S., Chu, N. H. S., Yang, A., Chow, E., & Cheung, Y. T. (2024) · Journal of Nutrition · doi:10.1016/j.tjnut.2024.11.012 · Cited by 3
Population clustering of structural brain aging and its association with brain developmentPreprint
Duan, H., Shi, R., Kang, J., Banaschewski, T., Bokde, A. L. W., Büchel, C., Desrivières, S., Flor, H., Grigis, A., Garavan, H., et al. (2024) · eLife · doi:10.7554/elife.94970 · Cited by 6
Meaning in life and Parkinson’s disease in the UK Biobank
Sutin, A., Luchetti, M., Stephan, Y., & Terracciano, A. (2023) · Clinical Parkinsonism & Related Disorders · doi:10.1016/j.prdoa.2023.100231 · Cited by 2
“Polygenic scores for PD controlled for genetic risk for PD [11].”
Role of genetics in capturing racial disparities in cardiovascular diseasePreprint
Bose, A., Platt, D. E., Kartoun, U., Ng, K., & Parida, L. (2023) · medRxiv · doi:10.1101/2023.02.10.23285769 · Cited by 2
“This phenomenon was mitigated during the release of ePRS in UKB [19].”
InfluentialProtein mediators of chronic kidney disease in Type 2 diabetes: A mendelian randomization study
Liang, K. Y. H., Zheng, T. M., Tan, D., Sasako, T., Ilboudo, Y., Chen, Y., Butler‐Laporte, G., Yoshiji, S., & Richards, J. B. (2026) · PLoS Medicine · doi:10.1371/journal.pmed.1004802 · Cited by 1
“For the association analysis, we used T2D and T1D PRS released by Thompson and colleagues [45].”
Association of baseline brain care score with the incidence of age-related eye diseases
Yu, J., Zhang, Y.-Z., Gao, Y.-L., Ho, M., Kam, K.-W., Gong, B., Young, A. L., Pang, C., Tham, C. C., Yam, J. C. S., et al. (2026) · Eye · doi:10.1038/s41433-026-04701-z · Cited by 1
“Baseline BCS was analysed as a continuous variable (per 5-unit increase) to estimate the overall association, and as a categorical variable (quintiles) to assess potential non-linear associations.”
Liu, W., Song, J.-H., Shi, W.-D., Wan, S.-H., Shi, D., Lai, X.-F., Wang, H., Huo, Z.-Y., Hong, L., Liu, Q., et al. (2026) · npj Clean Air · doi:10.1038/s44407-026-00087-0 · Cited by 1
“The UK Biobank polygenetic risk score (PRS), including Standard PRS for hypertension, T2D, and CVD, were provided by Thompson et al. based on the external genome-wide association study 56 .”
Wu, X., Chen, Y., Liu, H., Sun, Z., Sun, P., Liu, Y., Shuai, P., Yang, H., Yang, L., & Wan, Z. (2026) · The journal of nutrition health & aging · doi:10.1016/j.jnha.2026.100868 · Cited by 1
“The AD PRS was constructed based on a previously described method from a UKB study [15], with higher scores indicating greater genetic susceptibility to AD.”
Zhang, Y., Zhu, P., Gao, D., Ji, M., Pan, Y., Dai, Y., Liu, Y., Zheng, F., & Xie, W. (2026) · Journal of the American Heart Association · doi:10.1161/jaha.125.046469 · Cited by 1
Yu, J., Zhang, Y.-Z., Gao, Y.-L., Xu, J.-M., Chen, H.-Y., Ho, M., Kam, K.-W., Young, A. L., Pang, C., Tham, C. C., et al. (2026) · Journal of Translational Medicine · doi:10.1186/s12967-026-07863-2 · Cited by 1
“The PRS for AMD (data field 26,204 in UKB), using summary statistics from an external GWAS meta-analysis, was variance-standardized [30] and has shown good performance for AMD prediction [31, 32].”
Zhang, J.-H., Yang, C.-L., Tan, Y., Na, M., Shakya, E., Zhang, D., Shi, X., Na, X., Li, Z., Ji, J. S., et al. (2026) · EBioMedicine · doi:10.1016/j.ebiom.2026.106155 · Cited by 1
“24 In current study, PRS was categorised as low and high level by its median.”
Zou, R., Takabayashi, K., Andica, C., Uchida, W., Kitagawa, T., Mizuta, K., Hagiwara, A., Kikuta, J., Aoki, S., & Kamagata, K. (2026) · Magnetic Resonance in Medical Sciences · doi:10.2463/mrms.mp.2025-0182
Kim, H.-J., Yang, P.-S., Park, H., Kim, D., Bae, H.-J., Lee, C.-H., Son, J.-W., Kim, U., & Joung, B. (2026) · Heart · doi:10.1136/heartjnl-2025-327272 · Cited by 1
Biological aging predicts mortality in Parkinson’s patients: evidence from UK Biobank
Duan, Q., Su, W., Yin, K., He, S.-Y., Liu, R.-Y., Wen, X.-J., Gu, X., Chen, T., Cao, B., & Chen, Y. (2026) · npj Parkinson s Disease · doi:10.1038/s41531-026-01268-0 · Cited by 1
“The genotype data of the UK Biobank were generated through employing a custom Axiom genotyping array, which assays 825,927 genetic variants 43 .”
InfluentialAssociations of cardiovascular-kidney-metabolic syndrome with age-related macular degeneration risk.
Wu, F., Xu, K., Zhao, Y.-Q., Wang, W., Yang, H.-H., Li, Y.-Q., Zheng, G., Li, Z.-H., Xia, Y., Liu, Y.-S., et al. (2026) · American journal of ophthalmology-glaucoma · doi:10.1016/j.ajo.2026.01.023 · Cited by 1
Wang, J., & Dai, Z. (2025) · Schizophrenia Bulletin · doi:10.1093/schbul/sbaf179 · Cited by 2
“24 All MRI data were processed to derive image-based phenotypes (IDPs) within the UK Biobank dataset.”
Pan, Y., Zhang, W.-Y., Dai, Y.-W., Liu, Y.-L., Gao, D.-Y., Zhang, Y.-Y., Ma, J.-Y., Zhu, M.-H., Diao, X.-Y., Yang, X.-Q., et al. (2025) · Diabetes, obesity and metabolism · doi:10.1111/dom.70166 · Cited by 1
“21,22 The PRS for standard T2D (Data-Field: 26285) is available directly from the UK Biobank database 19 and the Polygenic Score (PGS) Catalog 23 (PGS ID: PGS000036).”
A prospective study of eating disorders and risk of rheumatoid arthritis
Chen, J., Wang, P., Li, H., Yu, Z., Olsen, N. J., Su, J., Zeng, X., & Gao, X. (2025) · Seminars in Arthritis and Rheumatism · doi:10.1016/j.semarthrit.2025.152857 · Cited by 1
Wu, S., Li, J., Zhao, X., Li, J., Chen, S., Zhang, C., Suo, C., Wang, Y., Chen, X., Cui, M., et al. (2025) · GeroScience · doi:10.1007/s11357-025-01891-4 · Cited by 1
“The standard PRS for IS was generated using a Bayesian approach applied to meta-analyzed summary statistics from external genome-wide association studies (GWAS) data[21].”
Adverse Childhood Experiences, Genetic Susceptibility, and the Risk of Osteoporosis: A Cohort Study
Shu, Y.-L., Tu, C., Liu, Y.-Y., Song, L.-L., Wang, Y.-J., & Wu, M.-Y. (2025) · Medicina · doi:10.3390/medicina61081387 · Cited by 1
“Per-individual Per-individual PRS values were calculated as the genome-wide sum of the per-variant posterior effect size multiplied by allele dosage [29].”
InfluentialPlant-based diets, genetic predisposition, and the risk of adult-onset asthma A prospective study
Zhang, J., Wang, B., Tang, Z., He, Y., He, Y. N., An, R., Chen, L., Zhang, H., & Xia, Y. (2025) · European Journal of Nutrition · doi:10.1007/s00394-025-03757-z · Cited by 1
“We utilized the standard released version of the asthma polygenic risk score (PRS) from the UK Biobank [21].”
Associations of domestic hard water metrics with the risk of gout incidence and recurrence
Wei, S.-T., Zhang, J., Ren, S., Ye, D., & Fang, X. (2025) · PLoS ONE · doi:10.1371/journal.pone.0326052 · Cited by 1
“We accessed the standard GRS for gout released by the UK Biobank [20].”
John, A., Desai, R., Bartrés‐Faz, D., Cadar, D., Gaysina, D., Gonzalez, A. S., Marchant, N. L., Willroth, E. C., Richards, M., Saunders, R., et al. (2025) · International Journal of Geriatric Psychiatry · doi:10.1002/gps.70120 · Cited by 1
“Detailed methodologies for how the PRS was derived are available online [22, 23].”
Wang, W., Ren, R., Yang, H., Jiang, J., Ye, X., Wang, C., Ji, X., Li, W., Zhao, Y., Xia, Y., et al. (2025) · Journal of the American Heart Association · doi:10.1161/jaha.125.041697 · Cited by 1
Xu, C., Zhang, Q., Xu, S., Xiao, Y., Zhao, L., Li, T.-J., Guo, W.-J., Zhong, Y., & Chen, H.-T. (2025) · BMJ Open Sport & Exercise Medicine · doi:10.1136/bmjsem-2025-002547 · Cited by 1
“Outcomes were determined by the algorithmically defined outcomes (IS) or the first occurrences of outcomes (AF, CHD and hypertension) which combined data from linkage to electronic health records and self-reported medical conditions at baseline of UK Biobank.”
Oexner, R., Schmitt, R., Ahn, H., Shah, R., Zoccarato, A., Theofilatos, K., & Shah, A. M. (2025) · arXiv.org · doi:10.48550/arxiv.2503.08870 · Cited by 1
Mukora, A., Costantino, M., Parent, O., Devenyi, G., & Chakravarty, M. (2025) · medRxiv · doi:10.1101/2025.02.21.25322638 · Cited by 1
Cancer, genetic susceptibility and risk of coronary artery disease: A prospective study
Wang, Y.-D., Zhong, S., Sun, N., Wu, Y.-F., Lyu, J., Piao, M., Qu, W.-B., Wang, X., Ni, W.-J., Gu, X., et al. (2024) · American Journal of Preventive Cardiology · doi:10.1016/j.ajpc.2024.100926 · Cited by 1
“PRS for CAD information for the genotyping and imputation in the UK Biobank has been described in detail elsewhere [14].”
Zhao, Z.-L., Chang, T.-M., Liu, X.-J., Bai, H., Li, Z., Zhang, Y., Chen, H., Zhang, T.-C., & Lu, M. (2024) · Medical Oncology · doi:10.1007/s12032-024-02570-8 · Cited by 1
“The scores are generated using a Bayesian approach applied to meta-analyzed summary statistics from Genome-wide Association Study (GWAS) data [20, 21].”
Liu, J.-W., Xie, Y.-Y., Liu, F., Qin, W., & Yu, C.-S. (2024) · NeuroImage: Clinical · doi:10.1016/j.nicl.2024.103683 · Cited by 1
Julkunen, H., & Rousu, J. (2024) · medRxiv · doi:10.1101/2024.08.07.24311604 · Cited by 1
“…an assay to inform on multidisease risk [13, 16]; and finally, we included a set of polygenic risk scores for both disease and quantitative traits [17], which have gained interest for their potential to enhance risk prediction models by providing complementary information to traditional risk…”
BackgroundCarvalho, N. R. G., He, Y., Smadbeck, P., Flannick, J. A., Mercader, J. M., Udler, M. S., Manrai, A. K., Moreno, J., & Patel, C. J. (2024) · medRxiv · doi:10.1101/2024.01.30.24302019 · Cited by 1
“Using the PXS-T2D model, we computed the PXS score for each subject in the UK Biobank and performed a Genome-Wide Association Study (GWAS) for PXS-T2D and all its component exposure behaviors (Table 1).”
InfluentialDIFFERENT COMBINATIONS OF THE METABOLIC SYNDROME CRITERIA AND CARDIOVASCULAR DISEASEPreprint
Lind, L. (2023) · medRxiv · doi:10.1101/2023.10.11.23296877 · Cited by 1
“For this aim, we also used derived polygenetic risk scores (PRS) 19 .”
Sun, W., Liu, D., Wang, D.-X., Liu, J.-Y., Zhang, Y.-J., Liu, F., Wang, X., Zheng, D., & Ji, J.-G. (2026) · International Journal of Cancer · doi:10.1002/ijc.70774
Liu, J., Du, H., Tang, J., Shi, X., Song, S., Zhang, R., Huang, L., Lai, Z., Li, D., Chen, S., et al. (2026) · The journal of nutrition health & aging · doi:10.1016/j.jnha.2026.100998
“The polygenic risk score (PRS) for CAD was obtained from the UK Biobank Standard PRS release (Data-Field 26227), which provides a precomputed polygenic score based on external genome-wide association study (GWAS) training data [14].”
Yang, Y.-H., Chen, X., Hu, Y.-H., Wang, X.-C., Wang, H.-L., Wei, Y.-Q., Zhang, F.-L., Dong, Z., & Yu, R.-H. (2026) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2026.1911138
“Detailed methods have been described previously (31 – 33).”
Lee, J., Kim, D., & Lee, S. (2026) · Briefings in Bioinformatics · doi:10.1093/bib/bbag563
“To ensure a reliable evaluation, the disease traits were drawn from the UK Biobank systematic PRS evaluation of Thompson et al. [ 15] and were restricted to traits with pseudosummary R 2 values greater than 0.001 in the UK Biobank, thereby excluding traits whose PRS accuracies were essentially…”
InfluentialSun, Y.-Y., Liu, T.-T., Deng, J., Cao, X., Tang, L. V., Hao, X.-J., & Hu, Y. (2026) · Research and Practice in Thrombosis and Haemostasis · doi:10.1016/j.rpth.2026.106973
“Standard PRS values for VTE were provided for each participant and can be accessed via UK Biobank data field 26289 [20].”
Jørgensen, R. R. K., Nøhr, A., Sørensen, J. R., Bøgsted, M., & Christensen, H. S. (2026) · doi:10.48550/arxiv.2609.01656
“( Thompson et al. 2022).”
Gjika, M., Sbrollini, A., Caputo, V. L., Paratico, S., Locati, E. T., & Burattini, L. (2026) · Frontiers in Genetics · doi:10.3389/fgene.2026.1816698
“58qt.v1 (Kanai et al., 2018), AF GWAS in UK Biobank (van der Harst, 2017), UK Biobank (Publication 9659) (Thompson et al., 2022) and GWAS summary statistics from a 2025 multi-ancestry AF meta-analysis (Roselli et al., 2025).”
Isayeva, U., Guloksuz, S., Lin, B., de Boer, N., Rutten, B., Linden, D. E. J., Manchia, M., & Luykx, J. (2026) · Translational Psychiatry · doi:10.1038/s41398-026-04332-8
“To evaluate the associations between genetic risk for SMIs and the incidence of somatic illnesses, we leveraged the standard PRS for SCZ and BD provided by the UK Biobank PRS Release [43].”
Metabolic Vulnerability Indices and Alzheimer’s Disease Risk: A Prospective UK Biobank Study
Ding, G., Liu, Y., Zhao, Y., Li, Y., He, Y., He, Y., Chen, N., & Cui, J. (2026) · Journal of Nutrition · doi:10.1016/j.tjnut.2026.101777
Zhao, X.-R., Ma, Y., Chen, N., Zheng, L., Xing, M.-Q., Cui, F.-P., Wang, J.-N., Tang, L.-X., Tian, Y.-H., & Han, L. (2026) · Journal of Hazardous Materials Advances · doi:10.1016/j.hazadv.2026.101523
Dowsett, J., Kjerulff, B., von Stemann, J. V., Bentsen, M., Schwinn, M., Bruun, M., Aagaard, B., Astrup, M., Banasik, K., Barghetti, A., et al. (2026) · Scientific Reports · doi:10.1038/s41598-026-64145-z
Wang, J., Liu, C. Y., Jia, X., Wang, J., Jia, C.-X., & Liu, B.-P. (2026) · Journal of the American Heart Association · doi:10.1161/jaha.125.048564
Yang, B., Zhang, D., Song, X., Ma, X. F., Zheng, S., Xiang, R., Zhao, X., Qu, Y., Han, T., Yu, T. P., et al. (2026) · BMC Musculoskeletal Disorders · doi:10.1186/s12891-026-10213-4
“For RA, we utilized the precomputed “Standard PRS” from the UK Biobank PRS Release, which has shown satisfactory predictive performance [23].”
Chen, W.-J., Min, J.-H., Xu, P., Xu, C.-J., Chen, W., & Cao, Z. (2026) · The Journal of Nutrition, Health & Aging · doi:10.1016/j.jnha.2026.100925
“This set, comprising calculations across all individuals in the UK Biobank for 28 diseases and 8 quantitative traits, was developed by a meta-analysis of multiple external genome-wide association study (GWAS) sources by Thompson et al. [17].”
Li, M. M., Yu, L., Yang, W., Song, L., Li, M. M., Bai, X., Yang, Z., Wang, Z., Lv, H., & Wang, H. (2026) · Brain Imaging and Behavior · doi:10.1007/s11682-026-01170-6
“The UK Biobank genetic dataset included polygenic risk score (PRS) for AD, which was calculated using a Bayesian method applied to summary statistics from meta-analyses of external genome-wide association studies (Thompson et al. 2022, Bycroft et al. 2018).”
Zhai, Y.-J., Ma, Q., Zhang, X.-J., He, X.-Q., Wang, G., & Liu, J. (2026) · Biomedicines · doi:10.3390/biomedicines14071473
“Additionally, this study calculated the enhanced PRS [14].”
Zhang, X., Si, K., Chen, N., Cao, Z., Wang, X. L., & Xu, C. (2026) · The journal of nutrition health & aging · doi:10.1016/j.jnha.2026.100909
“This set was developed by a meta-analysis of multiple external genome-wide association study sources by Thompson et al. [14].”
Life’s Essential 8, Polygenic Risk for Type 2 Diabetes, and Dementia: Evidence from the UK Biobank
Li, Y.-J., Ekblom, Ö., Bucha, B., Cojocari, A., Wang, H.-X., & Wang, R. (2026) · Nutrients · doi:10.3390/nu18132080
“The raw PRS was further normalized using the principal component-based ancestry centering step [21].”
Huang, Y.-Z., Chen, X.-L., Zhang, H., Bai, Z.-P., Shen, Y.-F., Zheng, D., Fang, L., Song, H.-Z., Gao, H.-B., Lu, F., et al. (2026) · Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease · doi:10.1161/jaha.125.047248
“20 The score computation was performed independently by Genomics PLC (Oxford, United Kingdom) within the framework of the UKB project to ensure reproducibility and transparency.”
Metadata
- 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
- Venue
- medRxiv
- Publisher
- openRxiv
- Published
- 2022-06-16
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review