WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation.

ABSTRACT:

Background

Congenital heart disease (CHD) is the most common birth defect and has high heritability. Although some susceptibility genes have been identified, the genetic basis underlying the majority of CHD cases is still undefined.

Methods

A total of 1320 unrelated CHD patients were enrolled in our study. Exome-wide association analysis between 37 tetralogy of Fallot (TOF) patients and 208 Han Chinese controls from the 1000 Genomes Project was performed to identify the novel candidate gene WD repeat-containing protein 62 (WDR62). WDR62 variants were searched in another expanded set of 200 TOF patients by Sanger sequencing. Rescue experiments in zebrafish were conducted to observe the effects of WDR62 variants. The roles of WDR62 in heart development were examined in mouse m

SUBMITTER: Hao L 

PROVIDER: S-EPMC9270576 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature