Genome-wide association studies of Down syndrome associated congenital heart defects.

ABSTRACT: Congenital heart defects (CHDs) are the most common structural birth defect and are present in 40-50% of children born with Down syndrome (DS). To characterize the genetic architecture of DS-associated CHD, we sequenced genomes of a multiethnic group of children with DS and a CHD (n=886: atrioventricular septal defects (AVSD), n=438; atrial septal defects (ASD), n=122; ventricular septal defects (VSD), n=170; other types of CHD, n=156) and DS with a structurally normal heart (DS+NH, n=572). We performed four GWAS for common variants (MAF>0.05) comparing DS with CHD, stratified by CHD-subtype, to DS+NH controls. Although no SNP achieved genome-wide significance, multiple loci in each analysis achieved suggestive significance (p<2×10^-6). Of these, the 1p35.1 locus (near RBBP4</

SUBMITTER: Feldman ER 

PROVIDER: S-EPMC11398599 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature