{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zheng SL"],"funding":["Hartstichting (Dutch Heart Foundation)","British Heart Foundation","Fondation Leducq","Wellcome Trust"],"pagination":["563-571"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11906360"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["57(3)"],"pubmed_abstract":["Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality, with pathogenic variants found in about a third of cases. Large-scale genome-wide association studies (GWAS) demonstrate that common genetic variation contributes to HCM risk. Here we derive polygenic scores (PGS) from HCM GWAS and genetically correlated traits and test their performance in the UK Biobank, 100,000 Genomes Project, and clinical cohorts. We show that higher PGS significantly increases the risk of HCM in the general population, particularly among pathogenic variant carriers, where HCM penetrance differs 10-fold between those in the highest and lowest PGS quintiles. Among relatives of HCM probands, PGS stratifies risks of developing HCM and adverse outcomes. Finally, among HCM cases, PGS strong"],"journal":["Nature genetics"],"pubmed_title":["Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings."],"pmcid":["PMC11906360"],"funding_grant_id":["CVON PRIME","BBC/F/21/220106","RE/13/1/30181","FS/15/81/31817","17CVD02","FS/ICRF/21/26019","RE/18/4/34215","107469/Z/15/Z"],"pubmed_authors":["Barton PJR","Verhagen JMA","Prasad SK","Bezzina CR","Wilde AAM","Pua CJ","de Marvao A","Curran L","Tadros R","Lumbers RT","Grace C","Pinto YM","Ware JS","Baksi J","Theotokis PI","Tang HC","Ormondroyd E","Zheng SL","Matthews P","Walsh R","Chin CWL","Goel A","Francis C","van Slegtenhorst MA","Halliday BP","Jurgens SJ","Buchan RJ","Michels M","Watkins H","Bai W","Amin AS","Harper AR","Jorda P","HCM GWAS Collaborators","O'Regan DP","McGurk KA","Xu X","Cook SA","Pantazis A"],"additional_accession":[]},"is_claimable":false,"name":"Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings.","description":"Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality, with pathogenic variants found in about a third of cases. Large-scale genome-wide association studies (GWAS) demonstrate that common genetic variation contributes to HCM risk. Here we derive polygenic scores (PGS) from HCM GWAS and genetically correlated traits and test their performance in the UK Biobank, 100,000 Genomes Project, and clinical cohorts. We show that higher PGS significantly increases the risk of HCM in the general population, particularly among pathogenic variant carriers, where HCM penetrance differs 10-fold between those in the highest and lowest PGS quintiles. Among relatives of HCM probands, PGS stratifies risks of developing HCM and adverse outcomes. Finally, among HCM cases, PGS strong","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2025-04-26T03:24:03.87Z","creation":"2025-04-06T10:51:32.8Z"},"accession":"S-EPMC11906360","cross_references":{"pubmed":["39966645"],"doi":["10.1038/s41588-025-02094-5"]}}