Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

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...

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Published in:Human molecular genetics 2013-04, Vol.22 (7), p.1473-1481
Main Authors: 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
Format: Article
Language:English
Subjects:
Biochemistry, Molecular Biology
Case-Control Studies
Chromosomes, Human, Pair 12 - genetics
Chromosomes, Human, Pair 13 - genetics
Female
Gene Frequency
Genetic Loci
Genetics
Genome-Wide Association Study
Human genetics
Humans
Life Sciences
Linkage Disequilibrium
Male
Molecular biology
Polymorphism, Single Nucleotide
Sciences of the Universe
Tetralogy of Fallot - genetics
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Summary: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 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.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/dds552