Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia.
Masahiro MiyakeKenji YamashiroYasuharu TabaraKenji SudaSatoshi MorookaHideo NakanishiChiea-Chuen KhorPeng ChenFan QiaoIsao NakataYumiko Akagi-KurashigeNorimoto GotohAkitaka TsujikawaAkira MeguroSentaro KusuharaOzen PolasekCaroline HaywardAlan F WrightHarry CampbellAndrea J RichardsonMaria SchacheMasaki TakeuchiDavid A MackeyAlex W HewittGabriel CuellarYi ShiLuling HuangZhenglin YangKim Hung LeungPatrick Y P KaoMaurice K H YapShea-Ping YipMuka MoriyamaKyoko Ohno-MatsuiNobuhisa MizukiStuart MacGregorVeronique VitartTin AungSeang-Mei SawE-Shyong TaiTien Yin WongChing-Yu ChengPaul N BairdRyo YamadaFumihiko Matsudanull nullNagahisa YoshimuraPublished in: Nature communications (2015)
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.