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

Masahiro Miyake, Kenji Yamashiro, Yasuharu Tabara, Kenji Suda, Satoshi Morooka, Hideo Nakanishi, Chiea Chuen Khor, Peng Chen, Fan Qiao, Isao Nakata, Yumiko Akagi-Kurashige, Norimoto Gotoh, Akitaka Tsujikawa, Akira Meguro, Sentaro Kusuhara, Ozen Polasek, Caroline Hayward, Alan F. Wright, Harry Campbell, Andrea J. RichardsonMaria Schache, Masaki Takeuchi, David A. MacKey, Alex W. Hewitt, Gabriel Cuellar, Yi Shi, Luling Huang, Zhenglin Yang, Kim Hung Leung, Patrick Y.P. Kao, Keng Hung Maurice Yap, Shea Ping Yip, Muka Moriyama, Kyoko Ohno-Matsui, Nobuhisa Mizuki, Stuart MacGregor, Veronique Vitart, Tin Aung, Seang Mei Saw, E. Shyong Tai, Tien Yin Wong, Ching Yu Cheng, Paul N. Baird, Ryo Yamada, Fumihiko Matsuda, Nagahisa Yoshimura

Research output: Journal article publicationJournal articleAcademic researchpeer-review

48 Citations (Scopus)

Abstract

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
Article number6689
Pages (from-to)V
JournalNature Communications
Volume6
DOIs
Publication statusPublished - 31 Mar 2015

ASJC Scopus subject areas

  • Chemistry(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Physics and Astronomy(all)

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