ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma
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Nongpiur, ME; Khor, CC; Jia, H; Cornes, BK; Chen, LJ; Qiao, C; Nair, KS; Cheng, CY; Xu, L; George, R...
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2014-01-01
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PLoS Genetics
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PUBLIC LIBRARY SCIENCE
Melbourne Authors
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Microbiology & Immunology
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Journal Article
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Nongpiur, M. E., Khor, C. C., Jia, H., Cornes, B. K., Chen, L. J., Qiao, C., Nair, K. S., Cheng, C. Y., Xu, L., George, R., Tan, D., Abu-Amero, K., Perera, S. A., Ozaki, M., Mizoguchi, T., Kurimoto, Y., Low, S., Tajudin, L. S. A., Ho, C. L. ,... Aung, T. (2014). ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma. Plos Genetics, 10 (3), https://doi.org/10.1371/journal.pgen.1004089.
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Abstract
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.