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.
Original language | English |
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Pages (from-to) | 1142-1146 |
Number of pages | 5 |
Journal | Nature Genetics |
Volume | 44 |
Issue number | 10 |
DOIs | |
Publication status | Published - Oct 2012 |
Externally published | Yes |