Journal
NATURE GENETICS
Volume 45, Issue 7, Pages 822-U151Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2637
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Funding
- Wellcome Trust [BH100708, 087436, 090532/Z/09/Z, 085475]
- British Heart Foundation (BHF)
- European Union [HEALTH-F2-2008-223040]
- SickKids Labatt Family Heart Centre Biobank
- Netherlands Heart Foundation [NHS2010B175]
- Heart Research UK
- US National Institutes of Health [HL068880]
- Agence Nationale de la Recherche (ANR) Labex project Medical Genomics
- BHF Centre of Research Excellence in Oxford
- European Community
- UK Department of Health via a National Institute for Health Research (NIHR) Comprehensive Biomedical Research Centre
- British Heart Foundation [RG/10/17/28553, PG/07/045/22690, RG/07/010/23676, FS/12/55/29695, RG/13/10/30376] Funding Source: researchfish
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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 x 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 x 10(-5); odds ratio (OR) in replication cohort = 1.40, 95% confidence interval (CI) = 1.19-1.65; combined P = 2.6 x 10(-10)). Genotype accounted for similar to 9% of the population-attributable risk of ASD.
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