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- Title
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
- Authors
Cordell, Heather J; Bentham, Jamie; Topf, Ana; Zelenika, Diana; Heath, Simon; Mamasoula, Chrysovalanto; Cosgrove, Catherine; Blue, Gillian; Granados-Riveron, Javier; Setchfield, Kerry; Thornborough, Chris; Breckpot, Jeroen; Soemedi, Rachel; Martin, Ruairidh; Rahman, Thahira J; Hall, Darroch; van Engelen, Klaartje; Moorman, Antoon F M; Zwinderman, Aelko H; Barnett, Phil
- Abstract
We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls and included affected individuals from each of the 3 major clinical CHD categories (with septal, obstructive and cyanotic defects). When all CHD phenotypes were considered together, no region achieved genome-wide significant association. However, a region on chromosome 4p16, adjacent to the MSX1 and STX18 genes, was associated (P = 9.5 × 10−7) with the risk of ostium secundum atrial septal defect (ASD) in the discovery cohort (N = 340 cases), and this association was replicated in a further 417 ASD cases and 2,520 controls (replication P = 5.0 × 10−5; odds ratio (OR) in replication cohort = 1.40, 95% confidence interval (CI) = 1.19-1.65; combined P = 2.6 × 10−10). Genotype accounted for ∼9% of the population-attributable risk of ASD.
- Subjects
CONGENITAL heart disease; GENOMES; PHENOTYPES; LOCUS (Genetics); DISEASE susceptibility; ATRIAL septal defects; CHROMOSOMES
- Publication
Nature Genetics, 2013, Vol 45, Issue 7, p822
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.2637