Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
Hum Mol Genet
; 22(7): 1473-81, 2013 Apr 01.
Article
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| MEDLINE
| ID: mdl-23297363
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.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Tetralogía de Fallot
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Cromosomas Humanos Par 12
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Cromosomas Humanos Par 13
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Estudio de Asociación del Genoma Completo
Tipo de estudio:
Observational_studies
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Risk_factors_studies
Límite:
Female
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Humans
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Male
Idioma:
En
Revista:
Hum Mol Genet
Asunto de la revista:
BIOLOGIA MOLECULAR
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GENETICA MEDICA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Reino Unido