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

Journal article

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.

Authors: Vithana, E; Khor, C; Qiao, C; Nongpiur, M; George, R

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Springer Nature
• Journal: Nature Genetics
• Volume: 44
• Issue: 10
• Pages: 1142–1146
• Publication date: 2012-08-26
• Acceptance date: 2012-08-01
• DOI: 10.1038/ng.2390
• EISSN: 1546-1718
• ISSN: 1061-4036
• Pmid: 22922875
• Language: English
• Keywords: SBTMR