Formin homology 2 domain containing 3 variants associated with hypertrophic cardiomyopathy.

ABSTRACT:

Background

Incomplete penetrance and variable expression of hypertrophic cardiomyopathy (HCM) is well appreciated. Common genetic polymorphisms variants that may affect HCM penetrance and expression have been predicted but are not well established.

Methods and results

We performed a case-control genomewide association study to identify common HCM-associated genetic polymorphisms and then asked whether such common variants were more represented in HCM or could explain the heterogeneity of HCM phenotypes. We identified an intronic FHOD3 variant (rs516514) associated with HCM (odds ratio, 2.45; 95% confidence interval, 1.76-3.41; P=1.25×10(-7)) and validated this finding in an independent cohort. Next, we tested FHOD3-V1151I (rs2303510), a nonsynonymous variant in partial linka

SUBMITTER: Wooten EC 

PROVIDER: S-EPMC3578062 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature