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Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

Lookup NU author(s): Professor Heather Cordell, Dr Ana TopfORCiD, Valentina Mamasoula, Rachel Soemedi, Dr Ruairidh Martin, Dr Thahira Rahman, Dr Darroch Hall, Professor Judith Goodship, Professor Bernard Keavney


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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 × 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.

Publication metadata

Author(s): Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AFM, Zwinderman AH, Barnett P, Koopman TT, Adriaens ME, Varro A, George Jr AL, dos Remedios C, Bishopric NH, Bezzina CR, O'Sullivan J, Gewilling M, Bu'Lock FA, Winlaw D, Bhattacharya S, Devriendt K, Brook JD, Mulder BJM, Mital S, Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD

Publication type: Article

Publication status: Published

Journal: Nature Genetics

Year: 2013

Volume: 45

Issue: 7

Pages: 822-824

Print publication date: 26/05/2013

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718

Publisher: Nature Publishing Group


DOI: 10.1038/ng.2637


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Funder referenceFunder name
Agence Nationale de la Recherche (ANR) Labex project Medical Genomics
European Community
SickKids Labatt Family Heart Centre Biobank
BHF Centre of Research Excellence in Oxford
British Heart Foundation (BHF)
Heart Research UK
UK Department of Health via a National Institute for Health Research (NIHR) Comprehensive Biomedical Research Centre
085475Wellcome Trust
090532/Z/09/ZWellcome Trust
087436Wellcome Trust
BH100708Wellcome Trust
HL068880US National Institutes of Health
HEALTH-F2-2008-223040European Union
NHS2010B175Netherlands Heart Foundation