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

doi:10.1093/hmg/dds552

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

Human molecular genetics - 1 Apr 2013

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

Abstract excerpt

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...

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PMID: 23297363
DOI: 10.1093/hmg/dds552
PMCID: PMC3596849

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