Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.

ABSTRACT:

Background

Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases have a genetic etiology; however, as a complex disease, the exact genetic risk factors are largely unknown, and many patients remain without a molecular diagnosis.

Methods

We performed GWAS followed by whole-genome, transcriptome, and immunohistochemical analyses in a spontaneously occurring canine model of DCM. Canine gene discovery was followed up in three human DCM cohorts.

Results

Our results revealed two independent additive loci associated with the typical DCM phenotype comprising left ventricular systolic dysfunction and dilatation. We highlight

SUBMITTER: Niskanen JE 

PROVIDER: S-EPMC10506233 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature