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Abstract #56401 Published in IGR 16-1
ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma
Nongpiur ME; Khor CC; Jia H; Cornes BK; Chen LJ; Qiao C; Nair KS; Cheng CY; Xu L; George R; Tan D; Abu-Amero K; Perera SA; Ozaki M; Mizoguchi T; Kurimoto Y; Low S; Tajudin LS; Ho CL; Tham CC; Soto I; Chew PT; Wong HT; Shantha B; Kuroda M; Osman EA; Tang GPLoS Genetics 2014; 10: e1004089
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 article
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
2.4 Anterior chamber angle (Part of: 2 Anatomical structures in glaucoma)
