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.
DOIAbstract
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 coho...
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