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

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 w...

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Bibliografski detalji
Glavni autori: Nongpiur, M, Khor, C, Jia, H, Cornes, B, Chen, L, Qiao, C, Nair, K, Cheng, C, Xu, L, George, R, Tan, D, Abu-Amero, K, Perera, S, Ozaki, M, Mizoguchi, T, Kurimoto, Y, Low, S, Tajudin, L, Ho, C, Tham, C, Soto, I, Chew, P, Wong, H, Shantha, B, Kuroda, M, Osman, E, Tang, G, Fan, S, Meng, H, Wang, H, Feng, B, Yong, V, Ting, S, Li, Y, Wang, Y, Li, Z, Lavanya, R, Wu, R, Zheng, Y, Su, D, Loon, S, Allingham, R, Hauser, M, Soumittra, N, Ramprasad, V, Waseem, N, Yaakub, A, Chia, K, Kumaramanickavel, G, Wong, T, How, A, Chau, T, Simmons, C, Bei, J, Zeng, Y, Bhattacharya, S, Zhang, M, Teo, Y, Al-Obeidan, S, Hon, D, Tai, E, Saw, S, Foster, P, Vijaya, L, Jonas, J, John, S, Pang, C, Vithana, E, Wang, N, Aung, T
Format: Journal article
Jezik:English
Izdano: Public Library of Science 2014
Opis
Sažetak: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.

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