A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

ABSTRACT: Congenital heart defects involving left-sided lesions (LSLs) are relatively common birth defects with substantial morbidity and mortality. Previous studies have suggested a high heritability with a complex genetic architecture, such that only a few LSL loci have been identified. We performed a genome-wide case-control association study to address the role of common variants using a discovery cohort of 778 cases and 2756 controls. We identified a genome-wide significant association mapping to a 200 kb region on chromosome 20q11 [P= 1.72 × 10^-8 for rs3746446; imputed Single Nucleotide Polymorphism (SNP) rs6088703 P= 3.01 × 10^-9, odds ratio (OR)= 1.6 for both]. This result was supported by transmission disequilibrium analyses using a subset of 541 case families (lowest P

SUBMITTER: Hanchard NA 

PROVIDER: S-EPMC5081047 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature