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

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

Research output: Contribution to journalArticle

51 Scopus citations

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 (US)
Pages (from-to)3880-3892
Number of pages13
JournalHuman Molecular Genetics
Volume24
Issue number13
DOIs
Publication statusPublished - Jul 1 2015

    Fingerprint

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Li, Z., Allingham, R. R., Nakano, M., Jia, L., Chen, Y., Ikeda, Y., ... Vithana, E. N. (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