PLoS genetics · 2014

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

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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

Аннотация

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.

Предметные рубрики MeSH

Anterior Chamber Asian People Genome-Wide Association Study Glaucoma, Angle-Closure Humans ATP-Binding Cassette, Sub-Family C Proteins Polymorphism, Single Nucleotide Risk Factors

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

Ошибки и ограничения

Аннотация

Предметные рубрики MeSH