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

Zheng Li, R Allingham, Masakazu Nakano, Liyun Jia, Yuhong Chen, Yoko Ikeda, Baskaran Mani, Li-Jia Chen, Changwon Kee, David Garway-Heath, Sarangapani Sripriya, Nobuo Fuse, Khalid Abu-Amero, Chukai Huang, Prasanthi Namburi, Kathryn Burdon, Shamira Perera, Puya Gharahkhani, Ying Lin, Morio UenoOzaki Mineo, Takanori Mizoguchi, Subbaiah Krishnadas, Essam Osam, Mei Lee, Anita Chan, Liza-Sharmini Tajudin, Tan Do, Aurelien Goncalves, Pascal Reynier, Hong Zhang, Rupert Bourne, David Goh, David Broadway, Rahat Husain, Anil Negi, Daniel Su, Ching-Lin Ho, Augusto Blanco, Christopher Leung, Tina Wong, Azhany Yakub, Yutao Liu, Monisha Nongpiur, Jong Han, Do Hon, Balekudaru Shantha, Bowen Zhao, Jinghong Sang, NiHong Zhang, Ryuichi Sato, Kengi Yoshii, Songhomita Pandas-Jones, Allison Koch, Leon Herndon, Sayoko Moroi, Pratap Challa, Jia-Nee Foo, Jin-Xin Bei, Yi-Xin Zeng, Cameron Simmons, Philomenadin Sharmila, Merwyn Chew, Blanche Lim, Pansy Tam, Elaine Chua, Xiao Ng, Victor Yong, Yaan Chong, Wee Meah, Saravanan Vijayan, Sohn Seongsoo, Wang Xu, Yik Ying Teo, Jessica Bailey Cooke, Jae Kang, Jonathan Haines, Ching-Yu Cheng, Seang-Mei Saw, E-Shyong Tai, Julia Richards, Robert Ritch, Douglas Gaasterland, Louis Pasquale, Jianjun Liu, Jost Jonas, Dan Milea, Ronnie George, Saleh Al-Obeidan, Kazuhiko Mori, Stuart Macgregor, Alex Hewitt, Christopher Girkin, Mingzhi Zhang, Periasamy Sundaresan, Lingam Vijaya, David Mackey, Tien-Yin Wong, Jamie Craig, Xinghuai Sun, Shigeru Kinoshita, Janey Wiggs, Chiea Khor, Zhenglin Yang, Chi Pui Pang, Ningli Wang, Michael Hauser, Kei Tashiro, Tin Aung, Eranga Vithana

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    58 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)3880-3892
    Number of pages13
    JournalHuman Molecular Genetics
    Volume24
    Issue number13
    DOIs
    Publication statusPublished - 2015

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  • Cite this

    Li, Z., Allingham, R., Nakano, M., Jia, L., Chen, Y., Ikeda, Y., Mani, B., Chen, L-J., Kee, C., Garway-Heath, D., Sripriya, S., Fuse, N., Abu-Amero, K., Huang, C., Namburi, P., Burdon, K., Perera, S., Gharahkhani, P., Lin, Y., ... Vithana, E. (2015). A common variant near TGFBR3 is associated with primary open angle glaucoma. Human Molecular Genetics, 24(13), 3880-3892. https://doi.org/10.1093/hmg/ddv128