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- PMID: 23708191
- UKPMCID: 23708191
- DOI: 10.1038/ng.2637
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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.
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; Koopmann, Tamara T; Adriaens, Michiel E; Varro, Andras; George, Alfred L; Dos Remedios, Christobal; Bishopric, Nanette H; Bezzina, Connie R; O'Sullivan, John; Gewillig, Marc; Bu'lock, Frances A; Winlaw, David; Bhattacharya, Shoumo; Devriendt, Koen; Brook, J David; Mulder, Barbara J M; Mital, Seema; Postma, Alex V; Lathrop, G Mark; Farrall, Martin; Goodship, Judith A; Keavney, Bernard D
Nature genetics. 2013;45(7):822-4.
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Full-text held externally
- PMID: 23708191
- UKPMCID: 23708191
- DOI: 10.1038/ng.2637
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.
Bibliographic metadata
- 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
- Koopmann, Tamara T
- Adriaens, Michiel E
- Varro, Andras
- George, Alfred L
- Dos Remedios, Christobal
- Bishopric, Nanette H
- Bezzina, Connie R
- O'Sullivan, John
- Gewillig, Marc
- Bu'lock, Frances A
- Winlaw, David
- Bhattacharya, Shoumo
- Devriendt, Koen
- Brook, J David
- Mulder, Barbara J M
- Mital, Seema
- Postma, Alex V
- Lathrop, G Mark
- Farrall, Martin
- Goodship, Judith A
- Keavney, Bernard D