A common variant near TGFBR3 is associated with primary open angle glaucoma
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 co...
Gespeichert in:
| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
10 April 2015
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| In: |
Human molecular genetics
Year: 2015, Jahrgang: 24, Heft: 13, Pages: 3880-3892 |
| ISSN: | 1460-2083 |
| DOI: | 10.1093/hmg/ddv128 |
| Online-Zugang: | Verlag, teilw. kostenfrei, Volltext: http://dx.doi.org/10.1093/hmg/ddv128 Verlag, teilw. kostenfrei, Volltext: https://academic-oup-com.ezproxy.medma.uni-heidelberg.de/hmg/article/24/13/3880/611917 
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| Verfasserangaben: | 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 Ueno, Mineo 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, NiHong Zhang, Ryuichi Sato, Kengo Yoshii, Songhomita Panda-Jonas, Ashley Koch, Allison E, Leon W. Herndon, Sayoko E. Moroi, Pratap Challa, Jia Nee Foo, Jin-Xin Bei, Yi-Xin Zeng, Cameron P. Simmons, Bich Chau, Tran Nguyen, 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, Cooke Bailey, Jessica N, 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 and Eranga N. Vithana |
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| 245 | 1 | 2 | |a A common variant near TGFBR3 is associated with primary open angle glaucoma |c 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 Ueno, Mineo 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, NiHong Zhang, Ryuichi Sato, Kengo Yoshii, Songhomita Panda-Jonas, Ashley Koch, Allison E, Leon W. Herndon, Sayoko E. Moroi, Pratap Challa, Jia Nee Foo, Jin-Xin Bei, Yi-Xin Zeng, Cameron P. Simmons, Bich Chau, Tran Nguyen, 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, Cooke Bailey, Jessica N, 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 and Eranga N. Vithana |
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| 520 | |a 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. | ||
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