Genome-wide association studies highlight novel risk loci for septal defects and left-sided congenital heart defects.

ABSTRACT:

Background

Congenital heart defects (CHD) are structural defects of the heart affecting approximately 1% of newborns. They exhibit low penetrance and non-Mendelian patterns of inheritance as varied and complex traits. While genetic factors are known to play an important role in the development of CHD, the specific genetics remain unknown for the majority of patients. To elucidate the underlying genetic risk, we performed a genome wide association study (GWAS) of CHDs in general and specific CHD subgroups using the FinnGen Release 10 (R10) (N > 393,000), followed by functional fine-mapping through eQTL and co-localization analyses using the GTEx database.

Results

We discovered three genome-wide significant loci associated with general CHD. Two of them were located in chromoso

SUBMITTER: Broberg M 

PROVIDER: S-EPMC10918883 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature