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Nat Genet ; 44(10): 1142-1146, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22922875

RESUMEN

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.


Asunto(s)
Proteínas Portadoras/genética , Colágeno Tipo XI/genética , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Glaucoma de Ángulo Cerrado/genética , Proteína D-Aspartato-L-Isoaspartato Metiltransferasa/genética , Estudios de Casos y Controles , Sitios Genéticos , Humanos , Modelos Logísticos , Polimorfismo de Nucleótido Simple , Análisis de Componente Principal , Proteínas Represoras/genética
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