論文

査読有り
2018年12月1日

CCDC102B confers risk of low vision and blindness in high myopia

Nature Communications
  • Yoshikatsu Hosoda
  • Munemitsu Yoshikawa
  • Masahiro Miyake
  • Yasuharu Tabara
  • Noriaki Shimada
  • Wanting Zhao
  • Akio Oishi
  • Hideo Nakanishi
  • Masayuki Hata
  • Tadamichi Akagi
  • Sotaro Ooto
  • Natsuko Nagaoka
  • Yuxin Fang
  • Takahisa Kawaguchi
  • Kazuya Setoh
  • Yoshimitsu Takahashi
  • Shinji Kosugi
  • Takeo Nakayama
  • Kyoko Ohno-Matsui
  • Ching-Yu Cheng
  • Seang Mei Saw
  • Ryo Yamada
  • Fumihiko Matsuda
  • Akitaka Tsujikawa
  • Kenji Yamashiro
  • 全て表示

9
1
開始ページ
1782
終了ページ
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/s41467-018-03649-3
出版者・発行元
Nature Publishing Group

The incidence of high myopia is increasing worldwide with myopic maculopathy, a complication of myopia, often progressing to blindness. Our two-stage genome-wide association study of myopic maculopathy identifies a susceptibility locus at rs11873439 in an intron of CCDC102B (P = 1.77 × 10-12 and P corr = 1.61 × 10-10). In contrast, this SNP is not significantly associated with myopia itself. The association between rs11873439 and myopic maculopathy is further confirmed in 2317 highly myopic patients (P = 2.40 × 10-6 and P corr = 1.72 × 10-4). CCDC102B is strongly expressed in the retinal pigment epithelium and choroids, where atrophic changes initially occur in myopic maculopathy. The development of myopic maculopathy thus likely exhibits a unique background apart from the development of myopia itself
elucidation of the roles of CCDC102B in myopic maculopathy development may thus provide insights into preventive methods for blindness in patients with high myopia.

リンク情報
DOI
https://doi.org/10.1038/s41467-018-03649-3
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/29725004
Scopus Url
http://www.scopus.com/inward/record.url?eid=2-s2.0-85046540463&partnerID=MN8TOARS 本文へのリンクあり
Scopus Citedby
https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85046540463&origin=inward
ID情報
  • DOI : 10.1038/s41467-018-03649-3
  • ISSN : 2041-1723
  • eISSN : 2041-1723
  • ORCIDのPut Code : 48567847
  • PubMed ID : 29725004
  • SCOPUS ID : 85046540463

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