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


Li, Z and Allingham, RR and Nakano, M and Jia, L and Chen, Y and Ikeda, Y and Mani, B and Chen, LJ and Kee, C and Garway-Heath, DF and Sripriya, S and Fuse, N and Abu-Amero, KK and Huang, C and Namburi, P and Burdon, K and Perera, SA and Gharahkhani, P and Lin, Y and Ueno, M and Ozaki, M and Mizoguchi, T and Krishnadas, SR and Osman, EA and Lee, MC and Chan, AS and Tajudin, LS and Do, T and Goncalves, A and Reynier, P and Zhang, H and Bourne, R and Goh, D and Broadway, D and Husain, R and Negi, AK and Su, DH and Ho, CL and Blanco, AA and Leung, CK and Wong, TT and Yakub, A and Liu, Y and Nongpiur, ME and Han, JC and Hon, DN and Shantha, B and Zhao, B and Sang, J and Zhang, N and Sato, R and Yoshii, K and Panda-Jonas, S and Ashley Koch, AE and Herndon, LW and Moroi, SE and Challa, P and Foo, JN and Bei, JX and Zeng, YX and Simmons, CP and Bich Chau, TN and Sharmila, PF and Chew, M and Lim, B and Tam, PO and Chua, E and Ng, XY and Yong, VH and Chong, YF and Meah, WY and Vijayan, S and Seongsoo, S and Xu, W and Teo, YY and Cooke Bailey, JN and Kang, JH and Haines, JL and Cheng, CY and Saw, SM and Tai, ES and Richards, JE and Ritch, R and Gaasterland, DE and Pasquale, LR and Liu, J and Jonas, JB and Milea, D and George, R and Al-Obeidan, SA and Mori, K and MacGregor, S and Hewitt, AW and Girkin, CA and Zhang, M and Sundaresan, P and Vijaya, L and Mackey, DA and Wong, TY and Craig, JE and Sun, X and Kinoshita, S and Wiggs, JL and Khor, CC and Yang, Z and Pang, CP and Wang, N and Hauser, MA and Tashiro, K and Aung, T and Vithana, EN, ICAARE-Glaucoma consortium, NEIGHBORHOOD consortium, A common variant near TGFBR3 is associated with primary open angle glaucoma, Human Molecular Genetics, 24, (13) pp. 3880-3892. ISSN 1460-2083 (2015) [Refereed Article]


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Licensed under Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

DOI: doi: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 (CDC7TGFBR3 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 Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, K (Professor Kathryn Burdon)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:99871
Year Published:2015
Web of Science® Times Cited:77
Deposited By:Menzies Institute for Medical Research
Deposited On:2015-04-14
Last Modified:2017-11-07
Downloads:494 View Download Statistics

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