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.
DOIAbstract
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 × 10-7) and replicated convincingly (P = 3.9 × 10-5) in 798 cases and 2931 controls [per allele odds ratio (OR) = 1.27 in replication cohort, P = 7.7 × 10-11 in combined populations]. Single nucleotide polymorphisms in the glypican 5 gene on chromosome 13q32 were also associated (P = 1.7 × 10-7) and replicated convincingly (P = 1.2 × 10-5) in 789 cases and 2927 controls (per allele OR = 1.31 in replication cohort, P = 3.03 × 10-11 in combined populations). Four additional regions on chromosomes 10, 15 and...
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