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 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.
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.