A common variant near TGFBR3 is associated with primary open angle glaucoma
journal contribution
posted on 2023-05-18, 09:15 authored by Li, Z, Allingham, RR, Nakano, M, Jia, L, Chen, Y, Ikeda, Y, Mani, B, Chen, LJ, Kee, C, Garway-Heath, DF, Sripriya, S, Fuse, N, Abu-Amero, KK, Huang, C, Namburi, P, Kathryn BurdonKathryn Burdon, Perera, SA, Gharahkhani, P, Lin, Y, Ueno, M, Ozaki, M, Mizoguchi, T, Krishnadas, SR, Osman, EA, Lee, MC, Chan, AS, Tajudin, LS, Do, T, Goncalves, A, Reynier, P, Zhang, H, Bourne, R, Goh, D, Broadway, D, Husain, R, Negi, AK, Su, DH, Ho, CL, Blanco, AA, Leung, CK, Wong, TT, Yakub, A, Liu, Y, Nongpiur, ME, Han, JC, Hon, DN, Shantha, B, Zhao, B, Sang, J, Zhang, N, Sato, R, Yoshii, K, Panda-Jonas, S, Ashley Koch, AE, Herndon, LW, Moroi, SE, Challa, P, Foo, JN, Bei, JX, Zeng, YX, Simmons, CP, Bich Chau, TN, Sharmila, PF, Chew, M, Lim, B, Tam, PO, Chua, E, Ng, XY, Yong, VH, Chong, YF, Meah, WY, Vijayan, S, Seongsoo, S, Xu, W, Teo, YY, Cooke Bailey, JN, Kang, JH, Haines, JL, Cheng, CY, Saw, SM, Tai, ES, Richards, JE, Ritch, R, Gaasterland, DE, Pasquale, LR, Liu, J, Jonas, JB, Milea, D, George, R, Al-Obeidan, SA, Mori, K, MacGregor, S, Alexander HewittAlexander Hewitt, Girkin, CA, Zhang, M, Sundaresan, P, Vijaya, L, David MackeyDavid Mackey, Wong, TY, Craig, JE, Sun, X, Kinoshita, S, Wiggs, JL, Khor, CC, Yang, Z, Pang, CP, Wang, N, Hauser, MA, Tashiro, K, Aung, T, Vithana, ENPrimary 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.
History
Publication title
Human Molecular GeneticsVolume
24Issue
13Pagination
3880-3892ISSN
1460-2083Department/School
Menzies Institute for Medical ResearchPublisher
Oxford University PressPlace of publication
United KingdomRights statement
Licensed under Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) http://creativecommons.org/licenses/by-nc/4.0/Repository Status
- Open
