@article{c89bdd85bac240bc9d66c760ffda9aa4,
title = "Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.: Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.",
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.",
author = "Cordell, {Heather J} and Jamie Bentham and Ana Topf and Diana Zelenika and Simon Heath and Chrysovalanto Mamasoula and Catherine Cosgrove and Gillian Blue and Javier Granados-Riveron and Kerry Setchfield and Chris Thornborough and Jeroen Breckpot and Rachel Soemedi and Ruairidh Martin and Rahman, {Thahira J} and Darroch Hall and {van Engelen}, Klaartje and Moorman, {Antoon F} and Zwinderman, {Aelko H} and Phil Barnett and Koopmann, {Tamara T} and Adriaens, {Michiel E} and Andras Varro and George, {Alfred L} and {dos Remedios}, Christobal and Bishopric, {Nanette H} and Bezzina, {Connie R} and John O'Sullivan and Marc Gewillig and Bu'Lock, {Frances A} and David Winlaw and Shoumo Bhattacharya and Koen Devriendt and JD Brook and Mulder, {Barbara J} and Seema Mital and Postma, {Alex V} and GM Lathrop and Martin Farrall and Goodship, {Judith A} and Keavney, {Bernard D}",
note = "10.1038/ng.2637",
year = "2013",
doi = "10.1038/ng.2637",
language = "English",
volume = "45",
pages = "822--824",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "7",
}