Article
Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings.
Nature genetics - 1 Mar 2025
Zheng Sean L, Jurgens Sean J, McGurk Kathryn A, Xu Xiao, Grace Chris, Theotokis Pantazis I, Buchan Rachel J, Francis Catherine, de Marvao Antonio, Curran Lara, Bai Wenjia, Pua Chee Jian, Tang Hak Chiaw, Jorda Paloma, van Slegtenhorst Marjon A, Verhagen Judith M A, Harper Andrew R, Ormondroyd Elizabeth, Chin Calvin W L, Pantazis Antonis, Baksi John, Halliday Brian P, Matthews Paul, Pinto Yigal M, Walsh Roddy, Amin Ahmad S, Wilde Arthur A M, Cook Stuart A, Prasad Sanjay K, Barton Paul J R, O'Regan Declan P, Lumbers R T, Goel Anuj, Tadros Rafik, Michels Michelle, Watkins Hugh, Bezzina Connie R, Ware James S
Abstract excerpt
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,...
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