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.

Full Text

Duke Authors

Cited Authors

  • Vithana, EN; Khor, C-C; Qiao, C; Nongpiur, ME; George, R; Chen, L-J; Do, T; Abu-Amero, K; Huang, CK; Low, S; Tajudin, L-SA; Perera, SA; Cheng, C-Y; Xu, L; Jia, H; Ho, C-L; Sim, KS; Wu, R-Y; Tham, CCY; Chew, PTK; Su, DH; Oen, FT; Sarangapani, S; Soumittra, N; Osman, EA; Wong, H-T; Tang, G; Fan, S; Meng, H; Huong, DTL; Wang, H; Feng, B; Baskaran, M; Shantha, B; Ramprasad, VL; Kumaramanickavel, G; Iyengar, SK; How, AC; Lee, KY; Sivakumaran, TA; Yong, VHK; Ting, SML; Li, Y; Wang, Y-X; Tay, W-T; Sim, X; Lavanya, R; Cornes, BK; Zheng, Y-F; Wong, TT; Loon, S-C; Yong, VKY; Waseem, N; Yaakub, A; Chia, K-S; Allingham, RR; Hauser, MA; Lam, DSC; Hibberd, ML; Bhattacharya, SS; Zhang, M; Teo, YY; Tan, DT; Jonas, JB; Tai, E-S; Saw, S-M; Hon, DN; Al-Obeidan, SA; Liu, J; Chau, TNB; Simmons, CP; Bei, J-X; Zeng, Y-X; Foster, PJ; Vijaya, L; Wong, T-Y; Pang, C-P; Wang, N; Aung, T

Published Date

  • October 2012

Published In

Volume / Issue

  • 44 / 10

Start / End Page

  • 1142 - 1146

PubMed ID

  • 22922875

Pubmed Central ID

  • 22922875

Electronic International Standard Serial Number (EISSN)

  • 1546-1718

Digital Object Identifier (DOI)

  • 10.1038/ng.2390


  • eng

Conference Location

  • United States