Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.
Nat Genet
; 44(10): 1142-1146, 2012 Oct.
Article
en En
| MEDLINE
| ID: mdl-22922875
Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Portadoras
/
Glaucoma de Ángulo Cerrado
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Predisposición Genética a la Enfermedad
/
Proteína D-Aspartato-L-Isoaspartato Metiltransferasa
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Colágeno Tipo XI
/
Estudio de Asociación del Genoma Completo
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Systematic_reviews
Límite:
Humans
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Singapur
Pais de publicación:
Estados Unidos