Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank.

ABSTRACT:

Importance

Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death in young people. Although rare genetic variants are well-established contributors to HCM risk, common genetic variants have recently been implicated in disease pathogenesis.

Objective

To assess the contributions of rare and common genetic variation to risk of HCM in the general population.

Design, setting, and participants

This cohort study of the UK Biobank (data from 2006-2010) and the Mass General Brigham Biobank (2010-2019) assessed the relative and joint contributions of rare genetic variants and a common variant (polygenic) score to risk of HCM. Both rare and common variant predictors were then evaluated in the context of relevant clinical risk factors. Data analysis was cond

SUBMITTER: Biddinger KJ 

PROVIDER: S-EPMC9118016 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature