Identification and functional study of GATA4 gene regulatory variants in atrial septal defects.

ABSTRACT:

Background

Congenital heart disease (CHD) is the leading cause of mortality from birth defects. In adult CHD patients with successful surgical repair, cardiac complications including heart failure develop at late stage, likely due to genetic causes. To date, many mutations in cardiac developmental genes have been associated with CHD. Recently, regulatory variants in genes have been linked to many human diseases. Although mutations and splicing variants in GATA4 gene have been reported in CHD patients, few regulatory variants of GATA4 gene are identified in CHD patients.

Methods

GATA4 gene regulatory region was investigated in the patients with atrial septal defects (ASD) (n = 332) and ethnic-matched controls (n = 336).

Results

Five heterozygous regulatory variants inc

SUBMITTER: Fan D 

PROVIDER: S-EPMC8243876 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature