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Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia
journal contribution
posted on 2023-05-18, 23:49 authored by Miyake, M, Yamashiro, K, Tabara, Y, Suda, K, Morooka, S, Nakanishi, H, Khor, CC, Chen, P, Qiao, F, Nakata, I, Akagi-Kurashige, Y, Gotoh, N, Tsujikawa, A, Meguro, A, Kusuhara, S, Polasek, O, Hayward, C, Wright, AF, Campbell, H, Richardson, AJ, Schache, M, Takeuchi, M, David MackeyDavid Mackey, Alexander HewittAlexander Hewitt, Cuellar, G, Shi, Y, Huang, L, Yang, Z, Leung, KH, Kao, PY, Yap, MK, Yip, SP, Moriyama, M, Ohno-Matsui, K, Mizuki, N, MacGregor, S, Vitart, V, Aung, T, Saw, SM, Tai, ES, Wong, TY, Cheng, CY, Baird, PN, Yamada, R, Matsuda, F, Yoshimura, NMyopia can cause severe visual impairment. Here, we report a two-stage genome-wide association study for three myopia-related traits in 9,804 Japanese individuals, which was extended with trans-ethnic replication in 2,674 Chinese and 2,690 Caucasian individuals. We identify WNT7B as a novel susceptibility gene for axial length (rs10453441, Pmeta=3.9 × 10(-13) and corneal curvature (Pmeta=2.9 × 10(-40) and confirm the previously reported association between GJD2 and myopia. WNT7B significantly associates with extreme myopia in a case-control study with 1,478 Asian patients and 4,689 controls (odds ratio (OR)meta=1.13, Pmeta=0.011). We also find in a mouse model of myopia downregulation of WNT7B expression in the cornea and upregulation in the retina, suggesting its possible role in the development of myopia.
History
Publication title
Nature CommunicationsVolume
6Article number
6689Number
6689Pagination
1-9ISSN
2041-1723Department/School
Tasmanian School of MedicinePublisher
Nature Publishing GroupPlace of publication
United KingdomRights statement
Copyright 2015 Macmillan Publishers LimitedRepository Status
- Restricted
