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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 genome-wide association study (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 

Original publication

DOI

10.1002/gepi.70010

Type

Journal article

Journal

Genet Epidemiol

Publication Date

06/2025

Volume

49

Keywords

Down syndrome, birth defect, congenital heart defect, genome‐wide association study, trisomy 21, Humans, Down Syndrome, Genome-Wide Association Study, Heart Defects, Congenital, Polymorphism, Single Nucleotide, Female, Male, Genetic Predisposition to Disease, Child, Case-Control Studies, Child, Preschool, Risk Factors