ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma

Monisha E. Nongpiur, Chiea Chuen Khor, Hongyan Jia, Belinda K. Cornes, Li Jia Chen, Chunyan Qiao, K. Saidas Nair, Ching-Yu Cheng, Liang Xu, Ronnie George, Do Tan, Khaled K Abu-Amero, Shamira A. Perera, Mineo Ozaki, Takanori Mizoguchi, Yasuo Kurimoto, Sancy Low, Liza Sharmini A. Tajudin, Ching Lin Ho, Clement C.Y. ThamIleana Soto, Paul T.K. Chew, Hon Tym Wong, Balekudaru Shantha, Masako Kuroda, Essam A. Osman, Guangxian Tang, Sujie Fan, Hailin Meng, Hua Wang, Bo Feng, Victor H.K. Yong, Serena M.L. Ting, Yang Li, Ya Xing Wang, Zheng Li, Raghavan Lavanya, Ren Yi Wu, Ying Feng Zheng, Daniel H. Su, Seng Chee Loon, R. Rand Allingham, Michael A. Hauser, Nagaswamy Soumittra, Vedam L. Ramprasad, Naushin Waseem, Azhany Yaakub, Kee Seng Chia, Govindasamy Kumaramanickavel, Tina T. Wong, Alicia C. How, Tran Nguyen Bich Chau, Cameron P. Simmons, Jin Xin Bei, Yi Xin Zeng, Shomi S Bhattacharya, Mingzhi Zhang, Donald T. Tan, Yik-Ying Teo, Saleh A. Al-Obeidan, Do Nhu Hon, E. Shyong Tai, Seang Mei Saw, Paul J. Foster, Lingam Vijaya, Jost B Jonas, Tien Yin Wong, Simon W.M. John, Chi Pui Pang, Eranga N. Vithana, Ningli Wang, Tin Aung

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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.

Original languageEnglish
Article numbere1004089
Number of pages8
JournalPLoS Genetics
Volume10
Issue number3
DOIs
Publication statusPublished - Mar 2014
Externally publishedYes

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