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

Journal article published in 2012 by Eranga N. Vithana, Ying-Feng Zheng, En N. Vithana, Cc-C. Khor, Chunyan Qiao, Chiea-Chuen Khor, Monisha E. Nongpiur, Ronnie George ORCID, Me E. Nongpiur, Li-Jia Chen, Tan Do, Khaled K. Abu-Amero, Chor Kai Huang, Sancy Low, Liza-Sharmini A. Tajudin and other authors.
This paper is available in a repository.
This paper is available in a repository.

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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.