A common variant near TGFBR3 is associated with primary open angle glaucoma

Li, Zheng and Allingham, R. Rand and Nakano, Masakazu and Jia, Liyun and Chen, Yuhong and Ikeda, Yoko and Mani, Baskaran and Chen, Li-Jia and Kee, Changwon and Garway-Heath, David F. and Sripriya, Sarangapani and Fuse, Nobuo and Abu-Amero, Khaled K. and Huang, Chukai and Namburi, Prasanthi and Burdon, Kathryn and Perera, Shamira A. and Gharahkhani, Puya and Lin, Ying and Ueno, Morio and Ozaki, Mineo and Mizoguchi, Takanori and Krishnadas, Subbiah R. and Osman, Essam A. and Lee, Mei Chin and Chan, Anita S. Y. and Tajudin, Liza-Sharmini A. and Do, Tan and Goncalves, Aurelien and Reynier, Pascal and Zhang, Hong and Bourne, Rupert R. A. and Goh, David and Broadway, David and Husain, Rahat and Negi, Anil K. and Su, Daniel H. and Ho, Ching-Lin and Blanco, Augusto A. and Leung, Christopher K. S. and Wong, Tina T. and Yakub, Azhany and Liu, Yutao and Nongpiur, Monisha E. and Han, Jong Chul and Hon, Do Nhu and Shantha, Balekudaru and Zhao, Bowen and Sang, Jinghong and Zhang, NiHong and Sato, Ryuichi and Yoshii, Kengo and Panda-Jonas, Songhomita and Ashley Koch, Allison E. and Herndon, Leon W. and Moroi, Sayoko E. and Challa, Pratap and Foo, Jia Nee and Bei, Jin-Xin and Zeng, Yi-Xin and Simmons, Cameron P. and Bich Chau, Tran Nguyen and Sharmila, Philomenadin F. and Chew, Merwyn and Lim, Blanche and Tam, Pansy O. S. and Chua, Elaine and Ng, Xiao Yu and Yong, Victor H. K. and Chong, Yaan Fun and Meah, Wee Yang and Vijayan, Saravanan and Seongsoo, Sohn and Xu, Wang and Teo, Yik Ying and Cooke Bailey, Jessica N. and Kang, Jae H. and Haines, Jonathan L. and Cheng, Ching Yu and Saw, Seang-Mei and Tai, E-Shyong and Richards, Julia E. and Ritch, Robert and Gaasterland, Douglas E. and Pasquale, Louis R. and Liu, Jianjun and Jonas, Jost B. and Milea, Dan and George, Ronnie and Al-Obeidan, Saleh A. and Mori, Kazuhiko and Macgregor, Stuart and Hewitt, Alex W. and Girkin, Christopher A. and Zhang, Mingzhi and Sundaresan, Periasamy and Vijaya, Lingam and Mackey, David A. and Wong, Tien Yin and Craig, Jamie E. and Sun, Xinghuai and Kinoshita, Shigeru and Wiggs, Janey L. and Khor, Chiea-Chuen and Yang, Zhenglin and Pang, Chi Pui and Wang, Ningli and Hauser, Michael A. and Tashiro, Kei and Aung, Tin and Vithana, Eranga N. (2015) A common variant near TGFBR3 is associated with primary open angle glaucoma. Human Molecular Genetics, 24 (13). pp. 3880-3892. ISSN 1460-2083

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Official URL: https://doi.org/10.1093/hmg/ddv128


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.

Item Type: Journal Article
Keywords: glaucoma, open-angle glaucoma, single nucleotide polymorphism, genetics, cdkn2b gene, exome
Faculty: ARCHIVED Faculty of Health, Social Care & Education (until September 2018)
Depositing User: Lisa Blanshard
Date Deposited: 07 Feb 2020 16:11
Last Modified: 09 Sep 2021 19:01
URI: https://arro.anglia.ac.uk/id/eprint/705169

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