151. A common variant near TGFBR3 is associated with primary open angle glaucoma
- Author
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Zhenglin Yang, Tien Yin Wong, Zheng Li, Kei Tashiro, R. Rand Allingham, Julia E. Richards, Nobuo Fuse, Wee Yang Meah, Robert Ritch, Yik Ying Teo, Dan Milea, Takanori Mizoguchi, Puya Gharahkhani, David F. Garway-Heath, David Goh, Yoko Ikeda, Allison E. Ashley Koch, Wang Xu, Baskaran Mani, Ronnie George, Masakazu Nakano, Jessica N. Cooke Bailey, Janey L. Wiggs, Ying Lin, Yutao Liu, Xiao Yu Ng, Hong Zhang, Stuart MacGregor, Leon W. Herndon, Mei Chin Lee, Elaine Chua, Jost B. Jonas, Tran Nguyen Bich Chau, Balekudaru Shantha, Cameron P. Simmons, SR Krishnadas, Kazuhiko Mori, Ching-Lin Ho, Rupert R A Bourne, Augusto Azuara Blanco, Ching-Yu Cheng, Kathryn P. Burdon, Liza-Sharmini Ahmad Tajudin, Shamira A. Perera, Do Nhu Hon, Louis R. Pasquale, Monisha E. Nongpiur, Khaled K. Abu-Amero, Tin Aung, Rahat Husain, Anil Negi, Ningli Wang, Chukai Huang, Jinghong Sang, Mineo Ozaki, Sarangapani Sripriya, E-Shyong Tai, Saleh A. Al-Obeidan, Jong Chul Han, Chiea Chuen Khor, Jia Nee Foo, Mingzhi Zhang, David C Broadway, David A. Mackey, Ryuichi Sato, Songhomita Panda-Jonas, Prasanthi Namburi, Jamie E Craig, Merwyn Chew, Nihong Zhang, Christopher A. Girkin, Jae H. Kang, Blanche Lim, Anita S Y Chan, Yuhong Chen, Michael A. Hauser, Douglas E. Gaasterland, Chi Pui Pang, Daniel H. Su, Pascal Reynier, Azhany Yakub, Pratap Challa, Alex W. Hewitt, Bowen Zhao, Victor H. K. Yong, Saravanan Vijayan, Yi Xin Zeng, Jonathan L. Haines, Essam A. Osman, Pansy O.S. Tam, Lingam Vijaya, Xinghuai Sun, Aurelien Goncalves, Jianjun Liu, Morio Ueno, Sayoko E. Moroi, Shigeru Kinoshita, Liyun Jia, Kengo Yoshii, Seang-Mei Saw, Tina T. Wong, Yaan Fun Chong, Philomenadin Ferdinamarie Sharmila, Changwon Kee, Tan Do, Periasamy Sundaresan, Jin-Xin Bei, Eranga N. Vithana, Christopher Kai-shun Leung, Sohn Seongsoo, and Li Jia Chen
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Male ,Open angle glaucoma ,genetic structures ,Genotype ,Population ,Glaucoma ,Single-nucleotide polymorphism ,Genome-wide association study ,Biology ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,0302 clinical medicine ,Genetics ,medicine ,SNP ,Humans ,education ,Molecular Biology ,Exome ,Genetics (clinical) ,Alleles ,030304 developmental biology ,Aged ,Aged, 80 and over ,0303 health sciences ,education.field_of_study ,Association Studies Articles ,Genetic Variation ,General Medicine ,Odds ratio ,Middle Aged ,medicine.disease ,eye diseases ,3. Good health ,030221 ophthalmology & optometry ,Female ,Proteoglycans ,sense organs ,Receptors, Transforming Growth Factor beta ,Glaucoma, Open-Angle - Abstract
Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10(-33)), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10(-8)). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.
- Published
- 2014