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

Vithana, EN; Khor, CC; Qiao, C; Nongpiur, ME; George, R; Chen, LJ; Do, T; Abu-Amero, K; Huang, CK; Low, S; Tajudin, LS; Perera, SA; Cheng, CY; Xu, L; Jia, H; Ho, CL; Sim, KS; Wu, RY; Tham, CC; Chew, PT; Su, DH; Oen, FT; Sarangapani, S; Soumittra, N; Osman, EA; Wong, HT; 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, YX; Tay, WT; Sim, X; Lavanya, R; Cornes, BK; Zheng, YF; Wong, TT; Loon, SC; Yong, VK; Waseem, N; Yaakub, A; Chia, KS; Allingham, RR; Hauser, MA; Lam, DS; Hibberd, ML; Bhattacharya, SS; Zhang, M; Teo, YY; Tan, DT; Jonas, JB; Tai, ES; Saw, SM; Hon, DN; Al-Obeidan, SA; Liu, J; Chau, TN; Simmons, CP; Bei, JX; Zeng, YX; Foster, PJ; Vijaya, L; Wong, TY; Pang, CP; Wang, N; Aung, T; (2012) Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. Nature genetics. ISSN 1061-4036 DOI:

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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.

Item Type: Article
Faculty and Department: Faculty of Infectious and Tropical Diseases > Dept of Pathogen Molecular Biology
PubMed ID: 22922875
Web of Science ID: 309550200016


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