Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.
Vithana EN, Khor CC, Qiao C et al.
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Abstract
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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.
1,281 East Asian ancestry cases, 1,987 East Asian ancestry controls, 337 South Indian ancestry cases, 2,538 South Indian ancestry controls, 236 South East Asian ancestry cases, 5,083 South East Asian ancestry controls
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