Clinical Resources

Clinical Resources & Evidence

Explore peer-reviewed studies highlighting the clinical relevance and impact of polygenic risk scores across a range of conditions – from cardiovascular disease to cancer, metabolic disorders, and beyond.

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Cardiovascular
Cancer
Metabolic Disorders
Neurological Disorders
Women’s Health
Other Conditions
Methodological Advances

Cardiovascular

 

A. General Cardiovascular Risk

  1. Contribution and interaction of polygenic predisposition and family history of coronary heart disease in predicting cardiovascular risk
    Federica Galimberti, Elena Olmastroni, Manuela Casula, Sining Xie, Alberico L. Catapano
    Atherosclerosis, Volume 408, September 2025, 120451
    https://doi.org/10.1016/j.atherosclerosis.2025.120451
  2. Polygenic Risk, Modifiable Lifestyle Behaviors, and Metabolic Factors: Associations with HDL-C, Triglyceride Levels, and Cardiovascular Risk
    Danyel Chermon, Ruth Birk
    Nutrients 2025, 17(13), 2244
    https://doi.org/10.3390/nu17132244
  3. Polygenic scores for obstructive sleep apnoea reveal pathways contributing to cardiovascular disease
    Nuzulul Kurniansyah, Satu J. Strausz, Geetha Chittoori, Shreyash Gupta, Anne E. Justice, Yana Hrytsenko, et al.
    EBioMedicine, The Lancet, 2025
    https://www.thelancet.com/journals/ebiom/article/PIIS2352-3964(25)00234-8/fulltext
  4. Endothelial cell-related genetic variants identify LDL cholesterol-sensitive individuals who derive greater benefit from aggressive lipid lowering
    Nicholas A. Marston, Frederick K. Kamanu, Giorgio E. M. Melloni, Gavin Schnitzler, Aaron Hakim, Rosa X. Ma, et al.
    Nature Medicine, Volume 31, May 2025, Pages 963–969
    https://www.nature.com/articles/s41591-025-03533-w
  5. Deep-learning prediction of cardiovascular outcomes from routine retinal images in individuals with type 2 diabetes
    Mohammad Ghouse Syed, Emanuele Trucco, Muthu R. K. Mookiah, Chim C. Lang, Rory J. McCrimmon, Colin N. A. Palmer, Ewan R. Pearson, Alex S. F. Doney, Ify R. Mordi
    Cardiovascular Diabetology, Volume 24, Article 3 (2025)
    https://cardiab.biomedcentral.com/articles/10.1186/s12933-024-02564-w
  6. Effect of disclosing a polygenic risk score for coronary heart disease on adverse cardiovascular events: 10-year follow-up of the MI-GENES randomized clinical trial
    Mohammadreza Naderian, Marwan E. Hamed, Ali A. Vaseem, Kristjan Norland, Ozan Dikilitas, Azin Teymourzadeh, Kent R. Bailey, Iftikhar J. Kullo
    medRxiv Preprint, July 2024
    https://doi.org/10.1101/2024.07.19.24310709
  7. Joint impact of polygenic risk score and lifestyles on early- and late-onset cardiovascular diseases
    The China Kadoorie Biobank Collaborative Group
    Nature Human Behaviour, Volume 8, July 2024, Pages 1810–1818
    https://www.nature.com/articles/s41562-024-01923-7
  8. Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease
    Heribert Schunkert, Emanuele Di Angelantonio, Michael Inouye, Riyaz S Patel, Samuli Ripatti, Elisabeth Widen, Saskia C Sanderson, Juan Pablo Kaski, John W McEvoy, Panos Vardas, Angela Wood, Victor Aboyans, Vassilios S Vassiliou, Frank L J Visseren, Luis R Lopes, Perry Elliott, Maryam Kavousi.
    European Heart Journal (2025) 46, 1372–1383
    https://doi.org/10.1093/eurheartj/ehae649
  9. Integration of a polygenic score into guideline-recommended prediction of cardiovascular disease
    Ling Li, Shichao Pang, Fabian Starnecker, Bertram Mueller-Myhsok, Heribert Schunkert
    European Heart Journal, Volume 45, Issue 20, 21 May 2024, Pages 1843–1852
    https://doi.org/10.1093/eurheartj/ehae048
  10. From biobank to prediction: polygenic risk scores for peripheral artery disease
    Eri Fukaya, Nicholas J Leeper, From biobank to prediction: polygenic risk scores for peripheral artery disease, European Heart Journal, 2026;, ehaf1042
    https://doi.org/10.1093/eurheartj/ehaf1042
 

B. Coronary Artery Disease (CAD)

  1. Self-reported walking pace, polygenic risk scores and risk of coronary artery disease in UK Biobank
    F. Zaccardi, I.R. Timmins, J. Goldney, F. Dudbridge, P.C. Dempsey, M.J. Davies, K. Khunti, T. Yates
    Nutrition, Metabolism and Cardiovascular Diseases, Volume 32, Issue 11, November 2022, Pages 2630–2637
    https://doi.org/10.1016/j.numecd.2022.06.014
  2. Polygenic risk scores improve CAD risk prediction in individuals at borderline and intermediate clinical risk
    Dariusz Ratman, Placede Tshiaba, Michael Levin, Jiayi Sun, Tate Tunstall, Robert Maier, Premal Shah, Matthew Rabinowitz, Daniel J. Rader, Akash Kumar, Kate Im
    npj Cardiovascular Health, Volume 2, Article number: 13 (2025), Published: 01 May 2025
    https://www.nature.com/articles/s44261-024-00015-4

 

C. Myocardial Infarction

  1. Polygenic Prediction of Recurrent Events After Early-Onset Myocardial Infarction
    Maddalena Ardissino et al.
    Circulation: Genomic and Precision Medicine, Volume 17, Number 6 (2024), Originally Published: 29 November 2024
    https://doi.org/10.1161/CIRCGEN.124.004687

Cancer

A. Breast Cancer

  1. Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores
    Peeter Padrik et al.
    Cancers, Volume 17, Issue 7, Article 1056 (2025), Published: 21 March 2025
    https://doi.org/10.3390/cancers17071056

  2. Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction
    Kristia Yiangou et al.
    Breast Cancer Research, Volume 26, Article number: 189 (2024), Published: 29 December 2024
    https://www.nature.com/articles/s13058-024-01750-5 

  3. Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction
    Guochong Jia et al.
    Nature Genetics, Volume 56, Pages 819–826 (2024), Published: 13 May 2024
    https://www.nature.com/articles/s41588-024-01643-0 

  4. Polygenic Risk Scores Improve Breast Cancer Screening
    M. Alexander Otto
    Medscape Medical News, Published: 03 April 2024
    https://www.medscape.com/viewarticle/992440 

  5. P063: A second-generation polygenic risk score (PRS) based on genetic ancestry improves breast cancer (BC) risk prediction for all ancestries
    Timothy Simmons et al.
    Genetics in Medicine Open, Volume 2, Supplement 1, 2024, Article 100945
    https://doi.org/10.1016/j.gimo.2024.100945

  6. Breast Cancer Polygenic Risk Score Associated with Outcomes after In Situ Breast Disease
    Timothy Simmons et al.
    Americam Association for Cancer Research
    https://aacrjournals.org/cebp/article/34/11/1936/766706/Breast-Cancer-Polygenic-Risk-Score-Associated-with

B. Prostate Cancer

  1. Polygenic Risk Scores for Prostate Cancer: Comparative Evaluations in UK and Australian Cohorts
    Hamzeh M. Tanha et al.
    HGG Advances, Article 100477 (2025), Published: 7 July 2025
    https://doi.org/10.1016/j.xhgg.2025.100477

  2. Assessment of a Polygenic Risk Score in Screening for Prostate Cancer
    Jana K. McHugh et al.
    The New England Journal of Medicine, Volume 392, Pages 1406–1417 (2025), Published: 9 April 2025
    https://doi.org/10.1056/NEJMoa2407934

  3. Polygenic Risk Score and Upgrading in Patients With Prostate Cancer Receiving Active Surveillance
    Louisa B. Goss et al.
    JAMA Oncology, Volume 11, Issue 2, Pages 168–171 (2025), Published: 1 February 2025
    https://doi.org/10.1001/jamaoncol.2024.5398

  4. Predicting Prostate Cancer Risk: Are Polygenic Risk Scores Ready for Prime Time?
    Howard Wolinsky
    Medscape Medical News, Published: 5 September 2023
    https://www.medscape.com/viewarticle/996254

  5. Prostate cancer: Could polygenic risk scores make national screening a reality?
    Elisabeth Mahase
    BMJ, Volume 389 (2025), Published: 15 April 2025
    https://doi.org/10.1136/bmj.r763

  6. Polygenic risk scores for pre-MRI risk stratification in men with clinically suspected prostate cancer
    Max P Fischer et al
    JNCI: Journal of the National Cancer Institute
    https://doi.org/10.1093/jnci/djag027

  7. Polygenic risk score and 20-year prostate cancer-specific mortality and survival
    Anna Plym et al.
    Communications Medicine volume 6, Article number: 243 (2026) 
    https://www.nature.com/articles/s43856-026-01603-9

C. Melanoma

  1. Exploring the Germline Genetics of In Situ and Invasive Cutaneous Melanoma: A Genome-Wide Association Study Meta-Analysis
    Nathan Ingold et al.
    JAMA Dermatology, Volume 160, Issue 9, Pages 964–971 (2024), Published Online: 14 August 2024
    https://doi.org/10.1001/jamadermatol.2024.2601 

D. Late Bladder Toxicity

  1. A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer
    Manzur Farazi et al.
    Cancer Epidemiology, Biomarkers & Prevention, Volume 34, Issue 5, Pages 795–804 (2025), Published: 2 May 2025
    https://doi.org/10.1158/1055-9965.EPI-24-1228

Cardiometabolic Disorders

A. Obesity

  1. Early meal timing attenuates high polygenic risk of obesity
    R. De la Peña-Armada, María Rodríguez-Martín, Hassan S. Dashti, Ana Isabel Cascales, Frank A. J. L. Scheer, Richa Saxena, Marta Garaulet
    Obesity, First published: 20 July 2025
    https://doi.org/10.1002/oby.24319

  2. Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study
    Yoichi Sutoh, Tsuyoshi Hachiya, Yayoi Otsuka-Yamasaki, Shohei Komaki, Shiori Minabe, Hideki Ohmomo, Makoto Sasaki, Atsushi Shimizu
    Journal of Human Genetics, Volume 70, Pages 9–15 (2025)
    https://www.nature.com/articles/s10038-024-01280-3

B. Type 2 Diabetes (T2D)

  1. Comparison of polygenic risk scores for type 2 diabetes developed from different ancestry groups
    Takuma Furukawa et al.
    npj Metabolic Health and Disease, Volume 3, Article number: 17 (2025), Published: 03 May 2025
    https://www.nature.com/articles/s44270-024-00020-1 

  2. Author Correction: Multi-ancestry polygenic mechanisms of type 2 diabetes
    Kirk Smith et al.
    Nature Medicine, Volume 30, Page 2091 (2024), Published: 17 May 2024
    https://www.nature.com/articles/s41591-024-02969-8 

  3. Polygenic Risk for Type 2 Diabetes in African Americans
    Marguerite R. Irvin et al.
    Diabetes, Volume 73, Issue 6, Pages 993–1001 (2024), Published: 12 March 2024
    https://doi.org/10.2337/db23-0232

C. Dyslipidemia

  1. Sex differences in predicting dyslipidemia using polygenic risk score with fatty liver index and fibrotic nonalcoholic steatohepatitis index
    Sei Kim, Hae Young Yoo
    Scientific Reports, Volume 15, Article number: 7849 (2025), Published: 06 March 2025
    https://www.nature.com/articles/s41598-025-14797-9

D. Hypertension

  1. Clinical implementation of polygenic risk scores based on GWAS in the management of hypertension among Asian populations
    Narita, K., Hoshide, S. & Kario, K. Clinical implementation of polygenic risk scores based on GWAS in the management of hypertension among Asian populations. Hypertens Res (2026). https://doi.org/10.1038/s41440-026-02567-y
    https://www.nature.com/articles/s41440-026-02567-y

Neurological Disorders

A. Alzheimer’s

  1. Development of a k-Nearest Neighbors Model for the Prediction of Late-Onset Alzheimer’s Risk by Combining Polygenic Risk Scores and Phenotypic Variables
    Sandra Ferreiro López et al.
    Genes, Volume 16, Issue 4, Article 377 (2025), Published: 26 March 2025
    https://doi.org/10.3390/genes16040377

B. Dementia

  1. Intrinsic Capacity, Polygenic Risk Score, APOE Genotype, and Risk of Dementia: A Prospective Cohort Study Based on the UK Biobank
    Mengtong Sun et al.
    Neurology, Volume 102, Issue 12 (2024), Published: 06 June 2024
    https://doi.org/10.1212/WNL.0000000000209452  

Women's Health

A. Preeclampsia

  1. Preeclampsia prediction with maternal and paternal polygenic risk scores: the TMM BirThree Cohort Study
    Hisashi Ohseto et al.
    Scientific Reports, Volume 15, Article number: 13743 (2025), Published: 21 April 2025
    https://www.nature.com/articles/s41598-025-20819-z 

 
 

Other Conditions

A. Age-related Macular Degeneration

  1. Impact of Polygenic Risk Scores on Retinal Microstructures in Early and Intermediate Age-related Macular Degeneration: the Northern Ireland Sensory Aging Study
    Fangyao Tang, Ruth E. Hogg, Bethany E. Higgins, David M. Wright, Laura Smyth, Sobha Sivaprasad
    Eye (2025), Published: 29 May 2025
    https://www.nature.com/articles/s41433-024-02976-9 

B. Atrial Fibrillation

  1. Predicting Atrial Fibrillation After Stroke by Combining Polygenic Risk Scores and Clinical Features
    Reinier W.P. Tack et al.
    Stroke, Volume 56, Number 4 (2025), Originally Published: 30 January 2025
    https://doi.org/10.1161/STROKEAHA.124.05012

  2. Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases
    Carolina Roselli et al.
    Nature Genetics, Volume 57, Pages 539–547 (2025), Published: 06 March 2025
    https://www.nature.com/articles/s41588-025-01692-x 

C. COPD

  1. Functional impairment in COPD can be predicted using genomic-derived data
    Rui Marçalo et al.
    Chronic Obstructive Pulmonary Disease – Original Research
    https://doi.org/10.1016/j.pulmoe.2024.03.006

D. Depression

  1. The predictive value of polygenic risk scores for depression in gene-environment interaction studies: a systematic reviewIllius, S., Eder, J., Vogel, S. et al. The predictive value of polygenic risk scores for depression in gene-environment interaction studies: a systematic review. Transl Psychiatry 16, 121 (2026).
    https://doi.org/10.1038/s41398-025-03793-7

Methodological Advances

 

  1. Leveraging haplotype information in heritability estimation and polygenic prediction
    Jonas Meisner, Michael Eriksen Benros, Simon Rasmussen
    Nature Communications, Volume 16, Article number: 126 (2025), Published: 2 January 2025
    https://www.nature.com/articles/s41467-024-44427-4 

  2. Instability of high polygenic risk classification and mitigation by integrative scoring
    Anika Misra et al.
    medRxiv [Preprint], Posted: 28 October 2024, Version 2
    https://doi.org/10.1101/2024.07.24.24310897 

  3. Transferability of polygenic risk scores depending on demography and dominance coefficients
    Leonie Fohler et al.
    medRxiv [Preprint], Posted: 7 August 2024
    https://doi.org/10.1101/2024.08.07.24311645

  4. Real-time dynamic polygenic prediction for streaming data
    Justin D. Tubbs et al.
    medRxiv [Preprint], Posted: 14 July 2024
    https://doi.org/10.1101/2024.07.12.24310357 

  5. Boosting the power of genome-wide association studies within and across ancestries by using polygenic scores
    Adrian I. Campos et al.
    Nature Genetics, Volume 55, Pages 1769–1776 (2023), Published: 18 September 2023
    https://www.nature.com/articles/s41588-023-01492-7 

  6. Integration of risk factor polygenic risk score with disease polygenic risk score for disease prediction
    Hyein Jung et al.
    Communications Biology, Volume 7, Article number: 180 (2024), Published: 13 February 2024
    https://www.nature.com/articles/s42003-024-05794-2 

  7. PRS-Net: Interpretable polygenic risk scores via geometric learning
    Han Li et al.
    bioRxiv [Preprint], Posted: 13 February 2024
    https://doi.org/10.1101/2024.02.13.580211

  8. Incorporating functional annotation with bilevel continuous shrinkage for polygenic risk prediction
    Yongwen Zhuang et al.
    BMC Bioinformatics, Volume 25, Article number: 65 (2024), Published: 9 February 2024
    https://doi.org/10.1186/s12859-024-05664-1 

  9. Enhancing polygenic risk prediction in diverse populations: opportunities and challenges
    Nature Genetics
    Nature Genetics, Volume 55, Pages 1621–1622 (2023), Published: 27 September 2023
    https://www.nature.com/articles/s41588-023-01448-x