ArticleCirculation. Genomic and precision medicine2024
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization.
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Article in Circulation. Genomic and precision medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed, 29 citations in OpenAlex.
- Performance of Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease in theCirculation. Genomic and precision medicine · 2026Article
- Improving Polygenic Risk Prediction for Atherosclerotic Cardiovascular Disease in East Asian Populations.JACC. Asia · 2026Review
- Genetic Diversity Analysis of Risk Variants Associated with Bone and Cartilage Metabolism in Nine Mexican Subpopulations.Biomedicines · 2026Article
- Cardiovascular Genetic Epidemiology in the Genome-Wide Era: From Association Discovery to Mechanistic Dissection and Clinical Translation.Cardiovascular drugs and therapy · 2026Review
- Unraveling Atherosclerosis through Multi-omics: Systematic Insights into the Unique Applications and Clinical Perspectives.Current atherosclerosis reports · 2026Review
- Multi-trait polygenic risk scores improve genomic prediction of atrial fibrillation across diverse ancestries.Nature communications · 2026Article
- Analytic Choices Shape Genomic Risk Estimates from Electronic Health Records: Coronary Heart Disease in eMERGE IV.medRxiv : the preprint server for health sciences · 2026Article
- Evaluating Individual Level Performance of Polygenic Risk Scores Using Early Onset High Genetic Risk Coronary Artery Disease as a Benchmark.medRxiv : the preprint server for health sciences · 2026Article
- Economic modeling of polygenic risk prediction of coronary artery disease in childhood.NPJ cardiovascular health · 2026Article
- Evaluating the impact of family history and polygenic risk scores on cardiometabolic disease risk.BMC medicine · 2026Article
- Polygenic risk scores: Navigating the future of precision medicine through economic, ethical, and scientific advancements.iScience · 2026Review
- Polygenic risk score translation across diverse populations.Frontiers in cardiovascular medicine · 2026Review
- Integrating Vascular Aging and Genetic Risk: The Combined Impact of Estimated Pulse Wave Velocity and Genetic Predisposition on Coronary Artery Disease.Journal of the American Heart Association · 2025Article
- The Utility of Genome-Wide Association Studies in Inherited Arrhythmias and Cardiomyopathies.Genes · 2025Review
- Article
- Recommendations for responsible use of population descriptors in polygenic risk score development.Nature genetics · 2025Review
- Impact of Genetic Risk Factors on Coronary Heart Disease Risk Across the Age Spectrum in Three Major Race/Ethnicity Groups in the United States.medRxiv : the preprint server for health sciences · 2025Article
- Cross-Ancestry Polygenic Risk Scores Enhance Alzheimer's Disease Risk Prediction in Multiethnic Cohorts.medRxiv : the preprint server for health sciences · 2025Article
- Multi-trait polygenic risk scores improve genomic prediction of atrial fibrillation across diverse ancestries.Research square · 2025Article
- Methods for multiancestry genome-wide association study meta-analysis.Annals of human genetics · 2025Review
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Authors and funding
19 authors at 12 institutions in 5 countries.
Johanna L Smith *Department of Cardiovascular Medicine (J.L.S., O.D., I.J.K.), Mayo Clinic, Rochester, MN.ORCID 0000-0002-5861-0413
Catherine Tcheandjieu *Department of Epidemiology and Biostatistics, University of California San Francisco (C.T.).ORCID 0000-0001-9559-4339
Ozan DikilitasDepartment of Cardiovascular Medicine (J.L.S., O.D., I.J.K.), Mayo Clinic, Rochester, MN.ORCID 0000-0002-9906-8608
Kruthika IyerStanford University School of Medicine, Palo Alto, CA (K. Iyer, A.H.).
Kazuo MiyazawaRiken Center for Integrative Medical Sciences, Yokohama City, Japan (K.M., K. Ito).ORCID 0000-0002-1453-9037
Austin HilliardVA Palo Alto Health Care System (C.T., A.H., P.S.T., S.L.C.).ORCID 0000-0002-1289-4377
Julie LynchSalt Lake City VA Met Center, UT (J.L.).ORCID 0000-0003-0108-2127
Jerome I RotterInstitute for Translational Genomics and Population Sciences, Department of Pediatrics, Lundquist Institute at Harbor-UCLA Medical Center, Torrance, CA (J.I.R., Y.-D.I.C.).ORCID 0000-0001-7191-1723
Yii-Der Ida ChenInstitute for Translational Genomics and Population Sciences, Department of Pediatrics, Lundquist Institute at Harbor-UCLA Medical Center, Torrance, CA (J.I.R., Y.-D.I.C.).ORCID 0000-0003-1741-3517
Wayne Huey-Herng SheuInstitute of Molecular and Genomic Medicine, National Health Research Institute (W.H.-H.S.).ORCID 0000-0002-8805-8340
Kyong-Mi ChangCorporal Michael J Crescenz VA Medical Center, Philadelphia, PA (K.-M.C.).ORCID 0000-0001-6811-9364
Stavroula KanoniQueen Mary University of London, Cambridge, United Kingdom (S.K.).ORCID 0000-0002-1691-9615
Philip S TsaoVA Palo Alto Health Care System (C.T., A.H., P.S.T., S.L.C.).ORCID 0000-0001-7274-9318
Kaoru ItoRiken Center for Integrative Medical Sciences, Yokohama City, Japan (K.M., K. Ito).ORCID 0000-0003-1843-773X
Matthew KoselDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN (M.K., D.J.S.).ORCID 0009-0008-5787-0134
Shoa L ClarkeVA Palo Alto Health Care System (C.T., A.H., P.S.T., S.L.C.).ORCID 0000-0002-6592-1172
Daniel J SchaidDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN (M.K., D.J.S.).ORCID 0000-0003-1457-6433
Themistocles L Assimes *Stanford University, Stanford, CA (P.S.T., S.L.C., T.L.A.).ORCID 0000-0003-2349-0009
Iftikhar J Kullo *Department of Cardiovascular Medicine (J.L.S., O.D., I.J.K.), Mayo Clinic, Rochester, MN.ORCID 0000-0002-6524-3471
Mayo Clinic in Arizona · USMayo Clinic in Florida · USPalo Alto University · USRIKEN Center for Integrative Medical Sciences · JPUCLA Medical Center · USVA Palo Alto Health Care System · USGladstone Institutes · USPhiladelphia VA Medical Center · USQueen Mary University of London · GBStanford University · USTaipei Veterans General Hospital · TWVA Salt Lake City Healthcare System · US
Funding
The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0MGenomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5MThe Clinical Genome Resource - Expert Curation and EHR IntegrationU41HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S · 2017 to 2020
$13.3MPolygenic Risk Scores for Diverse Populations - Bridging Research and Clinical CareR01HL151152 · NHLBI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Christy Leigh Avery, Jennifer Below · 2020 to 2026
$12.3MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MWhole-genome sequencing analysis of coronary atherosclerosis and related traitsR01HL146860 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI DE VRIES, PAUL STEFAN · 2020 to 2024
$3.9MTOPMed Omics of Type 2 Diabetes and Quantitative TraitsUM1DK078616 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MANNING, ALISA KNODLE · 2021 to 2025
$3.8MTOPMed Omics of Cardiovascular Disease in DiabetesR01HL151855 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI MEIGS, JAMES B · 2020 to 2023
$3.3MNew methods for constructing and evaluating polygenic scoresR01HG011432 · NHGRI · STANFORD UNIVERSITY · PI PRITCHARD, JONATHAN K · 2020 to 2023
$3.3MPolygenic Risk of Disease in Populations of Diverse AncestryU01HG011710 · NHGRI · MAYO CLINIC ROCHESTER · PI SCHAID, DANIEL J. · 2021 to 2025
$3.2MQuantitative Methods for Genetic EpidemiologyR35GM140487 · NIGMS · MAYO CLINIC ROCHESTER · PI SCHAID, DANIEL J. · 2021 to 2025
$1.9MPatient-Oriented Research in Genomic Discovery and ImplementationK24HL137010 · NHLBI · MAYO CLINIC ROCHESTER · PI KULLO, IFTIKHAR J · 2017 to 2021
$590kNHGRI NIH HHS R01 HG011432NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG011710NHGRI NIH HHS U24 HG009650NHGRI NIH HHS U41 HG009650NHLBI NIH HHS K24 HL137010NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL146860NHLBI NIH HHS R01 HL151152NHLBI NIH HHS R01 HL151855NIDDK NIH HHS UM1 DK078616NIGMS NIH HHS R35 GM140487
Abstract
backgroundPredictive performance of polygenic risk scores (PRS) varies across populations. To facilitate equitable clinical use, we developed PRS for coronary heart disease (CHD; PRS
methodsWe derived ancestry-specific and multi-ancestry PRS
resultsMulti-ancestry PRS
conclusionsThe use of summary statistics from a large multi-ancestry genome-wide meta-analysis improved the performance of PRS
Indexed as
Coronary DiseaseGenome-Wide Association StudyMultifactorial InheritanceFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreHumansMaleMiddle AgedPolymorphism, Single NucleotideRisk Factorscoronary diseasegenetic association studiesgenetic predisposition to diseasegenetic risk scoregenetic variationodds ratio
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