Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants.

ABSTRACT: Cardiomyopathy presents a significant medical burden due to frequent hospitalizations and invasive interventions. While cardiomyopathy is considered a rare monogenic disorder caused by rare pathogenic variants in a few genes, emerging evidence suggests that common genetic modifiers influence disease penetrance and clinical variability. Quantifying the interplay between common genetic modifiers and rare pathogenic variants is challenging due to the rarity of subjects with cardiomyopathy and pathogenic variant carriers. In this study, we utilized large-scale genetic and phenotypic data from the UK Biobank to refine the genetic architecture of hypertrophic and dilated cardiomyopathies. Using ClinVar annotations and variant effect prediction tools, we first identified known and predicted patho

SUBMITTER: Klasfeld SJ 

PROVIDER: S-EPMC12278620 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature