Characterizing modifier genes of cardiac fibrosis phenotype in hypertrophic cardiomyopathy.

ABSTRACT:

Background

Clinical phenotypes of hypertrophic cardiomyopathy (HCM) vary greatly even among patients with the same gene mutations. This variability is largely regulated by unidentified modifier loci. The purpose of the study is to identify modifier genes for cardiac fibrosis-a major phenotype of HCM-using the BXD family, a murine cohort.

Methods

The relative severity of cardiac fibrosis was estimated by quantitation of cardiac collagen volume fraction (CCVF) across 66 members of the BXD family. Quantitative trait locus (QTL) mapping for cardiac fibrosis was done using GeneNetwork. Candidate modifier loci and genes associated with fibrosis were prioritized based on an explicit scoring system. Networks of correlation between fibrosis and cardiac transcriptomes were evaluated t

SUBMITTER: Xu F 

PROVIDER: S-EPMC8105878 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature