학술논문
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.
Document Type
Article
Author
Vithana, Eranga N; Khor, Chiea-Chuen; Qiao, Chunyan; Nongpiur, Monisha E; George, Ronnie; Chen, Li-Jia; Do, Tan; Abu-Amero, Khaled; Huang, Chor Kai; Low, Sancy; Tajudin, Liza-Sharmini A; Perera, Shamira A; Cheng, Ching-Yu; Xu, Liang; Jia, Hongyan; Ho, Ching-Lin; Sim, Kar Seng; Wu, Ren-Yi; Tham, Clement C Y; Chew, Paul T K
Source
Subject
*GLAUCOMA
*GENOMES
*DISEASE susceptibility
*LOCUS (Genetics)
*BLINDNESS
*CHROMOSOMES
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Language
ISSN
1061-4036
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. [ABSTRACT FROM AUTHOR]