Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.

ABSTRACT:

Background

Dilated cardiomyopathy (DCM) is a leading cause of heart failure and death. The etiology of DCM is genetically heterogeneous.

Objectives

We sought to define the prevalence of mutations in the RNA splicing protein RBM20 in a large cohort with DCM and to determine whether genetic variation in RBM20 is associated with clinical outcomes.

Methods

Subjects included in the Genetic Risk Assessment of Defibrillator Events (GRADE) study were aged at least 18 years, had an ejection fraction of ≤30%, and an implantable cardioverter-defibrillator (ICD). The coding region and splice junctions of RBM20 were screened in subjects with DCM; 2 common polymorphisms in RBM20, rs942077 and rs35141404, were genotyped in all GRADE subjects.

Results

A total of 1465 subjects

SUBMITTER: Refaat MM 

PROVIDER: S-EPMC3516872 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature