Article
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
Nature genetics - 1 Jul 2013
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
Abstract excerpt
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...
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