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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.
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
URL: http://dx.doi.org/10.1038/ng.2637
DOI: 10.1038/ng.2637
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