Nongpiur Monisha E, Khor Chiea Chuen, Jia Hongyan, Cornes Belinda K, Chen Li-Jia, Qiao Chunyan, Nair K Saidas, Cheng Ching-Yu, Xu Liang, George Ronnie, Tan Do, Abu-Amero Khaled, Perera Shamira A, Ozaki Mineo, Mizoguchi Takanori, Kurimoto Yasuo, Low Sancy, Tajudin Liza-Sharmini A, Ho Ching-Lin, Tham Clement C Y, Soto Ileana, Chew Paul T K, Wong Hon-Tym, Shantha Balekudaru, Kuroda Masako, Osman Essam A, Tang Guangxian, Fan Sujie, Meng Hailin, Wang Hua, Feng Bo, Yong Victor H K, Ting Serena M L, Li Yang, Wang Ya-Xing, Li Zheng, Lavanya Raghavan, Wu Ren-Yi, Zheng Ying-Feng, Su Daniel H, Loon Seng-Chee, Yong Vernon K Y, Allingham R Rand, Hauser Michael A, Soumittra Nagaswamy, Ramprasad Vedam L, Waseem Naushin, Yaakub Azhany, Chia Kee-Seng, Kumaramanickavel Govindasamy, Wong Tina T, How Alicia C, Chau Tran Nguyen Bich, Simmons Cameron P, Bei Jin-Xin, Zeng Yi-Xin, Bhattacharya Shomi S, Zhang Mingzhi, Tan Donald T, Teo Yik-Ying, Al-Obeidan Saleh A, Hon Do Nhu, Tai E-Shyong, Saw Seang-Mei, Foster Paul J, Vijaya Lingam, Jonas Jost B, Wong Tien-Yin, John Simon W M, Pang Chi-Pui, Vithana Eranga N, Wang Ningli, Aung Tin
Singapore Eye Research Institute and Singapore National Eye Centre, Singapore.
Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Infectious Diseases, Genome Institute of Singapore, Singapore; Human Genetics, Genome Institute of Singapore, Singapore; Department of Paediatrics, National University Health System & National University of Singapore, Singapore; Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
PLoS Genet. 2014 Mar 6;10(3):e1004089. doi: 10.1371/journal.pgen.1004089. eCollection 2014 Mar.
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.
前房深度（ACD）是原发性闭角型青光眼（PACG）的一个关键解剖学风险因素。我们对5308名亚洲裔人群进行了一项关于ACD的全基因组关联研究（GWAS），以发现与PACG相关的新基因。在ABCC5基因内的一个序列变异位点（rs1401999；等位基因效应大小=-0.045mm，P=8.17×10⁻⁹）观察到全基因组显著关联。在另一项对4276例PACG病例和18801例对照的病例对照研究中，该位点与PACG风险增加相关（等位基因优势比=1.13[95%可信区间：1.06-1.22]，P=0.00046）。当分析中纳入开角型对照亚组时，这种关联得到加强（等位基因优势比=1.30，P=7.45×10⁻⁹；3458例病例对3831例对照）。我们的研究结果表明，PACG风险的增加可能部分由影响前房维度的基因序列变异介导。
