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