Title: Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
Authors: 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, Koenraad
Brook, J David
Mulder, Barbara J M
Mital, Seema
Postma, Alex V
Lathrop, G Mark
Farrall, Martin
Goodship, Judith A
Keavney, Bernard D #
Issue Date: May-2013
Publisher: Nature Publishing Group
Series Title: Nature genetics vol:45 issue:7 pages:822-4
Article number: 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.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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