ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.

Journal Article (Journal Article)

Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size =  -0.045 mm, P = 8.17 × 10(-9)). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06-1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45 × 10(-9); 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions.

Full Text

Duke Authors

Cited Authors

  • Nongpiur, ME; Khor, CC; Jia, H; Cornes, BK; Chen, L-J; Qiao, C; Nair, KS; Cheng, C-Y; Xu, L; George, R; Tan, D; Abu-Amero, K; Perera, SA; Ozaki, M; Mizoguchi, T; Kurimoto, Y; Low, S; Tajudin, L-SA; Ho, C-L; Tham, CCY; Soto, I; Chew, PTK; Wong, H-T; Shantha, B; Kuroda, M; Osman, EA; Tang, G; Fan, S; Meng, H; Wang, H; Feng, B; Yong, VHK; Ting, SML; Li, Y; Wang, Y-X; Li, Z; Lavanya, R; Wu, R-Y; Zheng, Y-F; Su, DH; Loon, S-C; Yong, VKY; Allingham, RR; Hauser, MA; Soumittra, N; Ramprasad, VL; Waseem, N; Yaakub, A; Chia, K-S; Kumaramanickavel, G; Wong, TT; How, AC; Chau, TNB; Simmons, CP; Bei, J-X; Zeng, Y-X; Bhattacharya, SS; Zhang, M; Tan, DT; Teo, Y-Y; Al-Obeidan, SA; Hon, DN; Tai, E-S; Saw, S-M; Foster, PJ; Vijaya, L; Jonas, JB; Wong, T-Y; John, SWM; Pang, C-P; Vithana, EN; Wang, N; Aung, T

Published Date

  • March 2014

Published In

Volume / Issue

  • 10 / 3

Start / End Page

  • e1004089 -

PubMed ID

  • 24603532

Pubmed Central ID

  • PMC3945113

Electronic International Standard Serial Number (EISSN)

  • 1553-7404

Digital Object Identifier (DOI)

  • 10.1371/journal.pgen.1004089


  • eng

Conference Location

  • United States