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

Vithana, EN; Khor, C; Qiao, C; Nongpiur, ME; George, R; Chen, L; Do, T; Abu-Amero, K; Huang, CK; Low, S; +69 more...Tajudin, LA; Perera, SA; Cheng, C; Xu, L; Jia, H; Ho, C; Sim, KS; Wu, R; Tham, CC; Chew, PT; Su, DH; Oen, FT; Sarangapani, S; Soumittra, N; Osman, EA; Wong, H; Tang, G; Fan, S; Meng, H; Huong, DT; Wang, H; Feng, B; Baskaran, M; Shantha, B; Ramprasad, VL; Kumaramanickavel, G; Iyengar, SK; How, AC; Lee, KY; Sivakumaran, TA; Yong, VH; Ting, SM; Li, Y; Wang, Y; Tay, W; Sim, X; Lavanya, R; Cornes, BK; Zheng, Y; Wong, TT; Loon, S; Yong, VK; Waseem, N; Yaakub, A; Chia, K; Allingham, RR; Hauser, MA; Lam, DS; Hibberd, ML; Bhattacharya, SS; Zhang, M; Teo, YY; Tan, DT; Jonas, JB; Tai, E; Saw, S; Hon, DN; Al-Obeidan, SA; Liu, J; Chau, TNB; Simmons, CP; Bei, J; Zeng, Y; Foster, PJ; Vijaya, L; Wong, T; Pang, C; Wang, N; Aung, T and (2012) Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. Nature genetics, 44 (10). pp. 1142-1146. ISSN 1061-4036 DOI: 10.1038/ng.2390
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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.

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