Article

Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.

1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University Health System & National University of Singapore, Singapore. [3] [4].
Nature Genetics (Impact Factor: 29.65). 08/2012; 44(10):1142-6. DOI: 10.1038/ng.2390
Source: PubMed

ABSTRACT 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.

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