CCDC102B confers risk of low vision and blindness in high myopia

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, Kyoko Ohno-Matsui, Ching-Yu Cheng, Seang Mei Saw, Ryo Yamada, Fumihiko Matsuda, Akitaka Tsujikawa and Kenji Yamashiro ()
Additional contact information
Yoshikatsu Hosoda: Kyoto University Graduate School of Medicine
Munemitsu Yoshikawa: Kyoto University Graduate School of Medicine
Masahiro Miyake: Kyoto University Graduate School of Medicine
Yasuharu Tabara: Kyoto University Graduate School of Medicine
Noriaki Shimada: Tokyo Medical and Dental University
Wanting Zhao: Singapore National Eye Centre
Akio Oishi: Kyoto University Graduate School of Medicine
Hideo Nakanishi: Kyoto University Graduate School of Medicine
Masayuki Hata: Kyoto University Graduate School of Medicine
Tadamichi Akagi: Kyoto University Graduate School of Medicine
Sotaro Ooto: Kyoto University Graduate School of Medicine
Natsuko Nagaoka: Tokyo Medical and Dental University
Yuxin Fang: Tokyo Medical and Dental University
Kyoko Ohno-Matsui: Tokyo Medical and Dental University
Ching-Yu Cheng: Singapore National Eye Centre
Seang Mei Saw: Singapore National Eye Centre
Ryo Yamada: Kyoto University Graduate School of Medicine
Fumihiko Matsuda: Kyoto University Graduate School of Medicine
Akitaka Tsujikawa: Kyoto University Graduate School of Medicine
Kenji Yamashiro: Kyoto University Graduate School of Medicine

Nature Communications, 2018, vol. 9, issue 1, 1-7

Abstract: 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.

Date: 2018
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DOI: 10.1038/s41467-018-03649-3

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