Association of Novel Locus With Rheumatic Heart Disease in Black African Individuals: Findings From the RHDGen Study.

ABSTRACT:

Importance

Rheumatic heart disease (RHD), a sequela of rheumatic fever characterized by permanent heart valve damage, is the leading cause of cardiac surgery in Africa. However, its pathophysiologic characteristics and genetics are poorly understood. Understanding genetic susceptibility may aid in prevention, control, and interventions to eliminate RHD.

Objective

To identify common genetic loci associated with RHD susceptibility in Black African individuals.

Design, setting, and participants

This multicenter case-control genome-wide association study (GWAS), the Genetics of Rheumatic Heart Disease, examined more than 7 million genotyped and imputed single-nucleotide variations. The 4809 GWAS participants and 116 independent trio families were enrolled from 8 African c

SUBMITTER: Machipisa T 

PROVIDER: S-EPMC8190704 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature