A common polymorphism in the SCN5A gene is associated with dilated cardiomyopathy.

ABSTRACT:

Aims

SCN5A is a disease-causing gene associated with familial dilated cardiomyopathy (FDC). We examined the possible association between a common polymorphism in the SCN5A gene (c.1673A>G-p.H558R; rs1805124) and the risk of dilated cardiomyopathy (DCM) occurrence.

Methods

We genotyped 185 DCM cases (familial DCM, idiopathic DCM and postischemic DCM) and 251 controls for the p.H558R polymorphism in the SCN5A gene, to test the association of the molecular epidemiology of the individuals with the presence/absence of various types of DCM.

Results

Our results showed that the rs1805124 polymorphism was significantly associated with DCM, and the association was more significant in patients with FDC; furthermore, in these individuals, the less frequent GG genotype was associa

SUBMITTER: Mazzaccara C 

PROVIDER: S-EPMC6012048 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature