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Title: CCDC102B confers risk of low vision and blindness in high myopia
Authors: Hosoda, Yoshikatsu
Yoshikawa, Munemitsu
Miyake, Masahiro
Tabara, Yasuharu
Shimada, Noriaki
Zhao, Wanting
Oishi, Akio  kyouindb  KAKEN_id  orcid (unconfirmed)
Nakanishi, Hideo
Hata, Masayuki
Akagi, Tadamichi
Ooto, Sotaro
Nagaoka, Natsuko
Fang, Yuxin
Ohno-Matsui, Kyoko
Cheng, Ching-Yu
Saw, Seang Mei
Yamada, Ryo
Matsuda, Fumihiko
Tsujikawa, Akitaka
Yamashiro, Kenji
Author's alias: 細田, 祥勝
吉川, 宗光
三宅, 正裕
田原, 康玄
島田, 典明
大石, 明生
中西, 秀雄
畑, 匡侑
赤木, 忠道
大音, 壮太郎
長岡, 奈都子
大野, 京子
山田, 亮
松田, 文彦
辻川, 明孝
山城, 健児
Keywords: Genetics research
Genome-wide association studies
Refractive errors
Retinal diseases
Issue Date: 3-May-2018
Publisher: Springer Nature
Journal title: Nature Communications
Volume: 9
Thesis number: 1782
Abstract: 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 Pcorr = 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 Pcorr = 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.
Description: 強度近視の失明メカニズムに関わる遺伝子変異を発見 --失明予防法開発の第一歩--. 京都大学プレスリリース. 2018-05-14.
Rights: © The Author(s) 2018. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit
DOI(Published Version): 10.1038/s41467-018-03649-3
PubMed ID: 29725004
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