Dataset Information

CCDC102B confers risk of low vision and blindness in high myopia.

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.

SUBMITTER: Hosoda Y

PROVIDER: S-EPMC5934384 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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CCDC102B confers risk of low vision and blindness in high myopia.

Hosoda Yoshikatsu Y Yoshikawa Munemitsu M Miyake Masahiro M Tabara Yasuharu Y Shimada Noriaki N Zhao Wanting W Oishi Akio A Nakanishi Hideo H Hata Masayuki M Akagi Tadamichi T Ooto Sotaro S Nagaoka Natsuko N Fang Yuxin Y Ohno-Matsui Kyoko K Cheng Ching-Yu CY Saw Seang Mei SM Yamada Ryo R Matsuda Fumihiko F Tsujikawa Akitaka A Yamashiro Kenji K

Nature communications 20180503 1

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 conf ...[more]

PMID: 29725004

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Dataset Information

CCDC102B confers risk of low vision and blindness in high myopia.

Publications

CCDC102B confers risk of low vision and blindness in high myopia.

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