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DOI 10.1371/journal.pgen.1004089

Медицинская библиотека · PLoS genetics · 2014

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

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

СтатьяПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

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.

Для цитирования: 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. ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.. PLoS genetics. 2014. DOI: 10.1371/journal.pgen.1004089.

Предметные рубрики MeSH

Anterior ChamberAsian PeopleGenome-Wide Association StudyGlaucoma, Angle-ClosureHumansATP-Binding Cassette, Sub-Family C ProteinsPolymorphism, Single NucleotideRisk Factors
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