Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia

M. Miyake, K. Yamashiro, Y. Tabara, K. Suda, S. Morooka, H. Nakanishi, C.C. Khor, P. Chen, F. Qiao, I. Nakata, Y. Akagi-Kurashige, N. Gotoh, A. Tsujikawa, A. Meguro, S. Kusuhara, O. Polasek, C. Hayward, A.F. Wright, H. Campbell, A.J. RichardsonM. Schäche, M. Takeuchi, David Mackey, A.W. Hewitt, G. Cuellar, Y. Shi, L. Huang, Z. Yang, K. Leung, P.Y.P. Kao, M. Yap, S. Yip, M. Moriyama, K. Ohno-Matsui, N. Mizuki, S. Macgregor, V. Vitart, T. Aung, S. Saw, E.S. Tai, T. Wong, C. Cheng, P.N. Baird, R. Yamada, F. Matsuda, N. Yoshimura

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40 Citations (Scopus)

Abstract

© 2015 Macmillan Publishers Limited. All rights reserved. Myopia 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.
Original languageEnglish
Pages (from-to)6689
JournalNature Communications
Volume6
DOIs
Publication statusPublished - 2015

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