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- PMID: 23297363
- UKPMCID: 23297363
- DOI: 10.1093/hmg/dds552
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Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
Cordell, Heather J; Töpf, Ana; Mamasoula, Chrysovalanto; Postma, Alex V; Bentham, Jamie; Zelenika, Diana; Heath, Simon; Blue, Gillian; Cosgrove, Catherine; Granados Riveron, Javier; Darlay, Rebecca; Soemedi, Rachel; Wilson, Ian J; Ayers, Kristin L; Rahman, Thahira J; Hall, Darroch; Mulder, Barbara J M; Zwinderman, Aelko H; van Engelen, Klaartje; Brook, J David; Setchfield, Kerry; Bu'Lock, Frances A; Thornborough, Chris; O'Sullivan, John; Stuart, A Graham; Parsons, Jonathan; Bhattacharya, Shoumo; Winlaw, David; Mital, Seema; Gewillig, Marc; Breckpot, Jeroen; Devriendt, Koen; Moorman, Antoon F M; Rauch, Anita; Lathrop, G Mark; Keavney, Bernard D; Goodship, Judith A
Human molecular genetics. 2013;22(7):1473-81.
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Full-text held externally
- PMID: 23297363
- UKPMCID: 23297363
- DOI: 10.1093/hmg/dds552
Abstract
We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 controls. A region on chromosome 12q24 was associated (P = 1.4 Ă— 10(-7)) and replicated convincingly (P = 3.9 Ă— 10(-5)) in 798 cases and 2931 controls [per allele odds ratio (OR) = 1.27 in replication cohort, P = 7.7 Ă— 10(-11) in combined populations]. Single nucleotide polymorphisms in the glypican 5 gene on chromosome 13q32 were also associated (P = 1.7 Ă— 10(-7)) and replicated convincingly (P = 1.2 Ă— 10(-5)) in 789 cases and 2927 controls (per allele OR = 1.31 in replication cohort, P = 3.03 Ă— 10(-11) in combined populations). Four additional regions on chromosomes 10, 15 and 16 showed suggestive association accompanied by nominal replication. This study, the first genome-wide association study of a congenital heart malformation phenotype, provides evidence that common genetic variation influences the risk of TOF.
Bibliographic metadata
- Cordell, Heather J
- Töpf, Ana
- Mamasoula, Chrysovalanto
- Postma, Alex V
- Bentham, Jamie
- Zelenika, Diana
- Heath, Simon
- Blue, Gillian
- Cosgrove, Catherine
- Granados Riveron, Javier
- Darlay, Rebecca
- Soemedi, Rachel
- Wilson, Ian J
- Ayers, Kristin L
- Rahman, Thahira J
- Hall, Darroch
- Mulder, Barbara J M
- Zwinderman, Aelko H
- van Engelen, Klaartje
- Brook, J David
- Setchfield, Kerry
- Bu'Lock, Frances A
- Thornborough, Chris
- O'Sullivan, John
- Stuart, A Graham
- Parsons, Jonathan
- Bhattacharya, Shoumo
- Winlaw, David
- Mital, Seema
- Gewillig, Marc
- Breckpot, Jeroen
- Devriendt, Koen
- Moorman, Antoon F M
- Rauch, Anita
- Lathrop, G Mark
- Keavney, Bernard D
- Goodship, Judith A