Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia.
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.
Miyake, M; Yamashiro, K; Tabara, Y; Suda, K; Morooka, S; Nakanishi, H; Khor, C-C; 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; Mackey, DA; Hewitt, AW; Cuellar, G; Shi, Y; Huang, L; Yang, Z; Leung, KH; Kao, PYP; Yap, MKH; Yip, SP; Moriyama, M; Ohno-Matsui, K; Mizuki, N; MacGregor, S; Vitart, V; Aung, T; Saw, S-M; Tai, E-S; Wong, TY; Cheng, C-Y; Baird, PN; Yamada, R; Matsuda, F; Nagahama Study Group, ; Yoshimura, N
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