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

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 × 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.

SUBMITTER: Cordell HJ 

PROVIDER: S-EPMC3596849 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature

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

Cordell Heather J HJ   Töpf Ana A   Mamasoula Chrysovalanto C   Postma Alex V AV   Bentham Jamie J   Zelenika Diana D   Heath Simon S   Blue Gillian G   Cosgrove Catherine C   Granados Riveron Javier J   Darlay Rebecca R   Soemedi Rachel R   Wilson Ian J IJ   Ayers Kristin L KL   Rahman Thahira J TJ   Hall Darroch D   Mulder Barbara J M BJ   Zwinderman Aelko H AH   van Engelen Klaartje K   Brook J David JD   Setchfield Kerry K   Bu'Lock Frances A FA   Thornborough Chris C   O'Sullivan John J   Stuart A Graham AG   Parsons Jonathan J   Bhattacharya Shoumo S   Winlaw David D   Mital Seema S   Gewillig Marc M   Breckpot Jeroen J   Devriendt Koen K   Moorman Antoon F M AF   Rauch Anita A   Lathrop G Mark GM   Keavney Bernard D BD   Goodship Judith A JA  

Human molecular genetics 20130107 7

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 1  ...[more]

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