Journal Article CCDC102B confers risk of low vision and blindness in high myopia

Hosoda, Yoshikatsu  ,  Yoshikawa, Munemitsu  ,  Miyake, Masahiro  ,  Tabara, Yasuharu  ,  Shimada, Noriaki  ,  Zhao, Wanting  ,  Oishi, Akio  ,  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

92018-05-03 , Springer Nature
ISSN:2041-1723
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.
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.
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http://repository.kulib.kyoto-u.ac.jp/dspace/bitstream/2433/231095/1/s41467-018-03649-3.pdf

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