Please use this identifier to cite or link to this item: https://doi.org/10.1038/s41467-018-03649-3
Title: CCDC102B confers risk of low vision and blindness in high myopia
Authors: Hosoda, Y
Yoshikawa, M
Miyake, M
Tabara, Y
Shimada, N
Zhao, W
Oishi, A
Nakanishi, H
Hata, M
Akagi, T
Ooto, S
Nagaoka, N
Fang, Y
Kawaguchi, T
Setoh, K
Takahashi, Y
Kosugi, S
Nakayama, T
Ohno-Matsui, K
Cheng, C.-Y 
Saw, S.M 
Yamada, R
Matsuda, F
Tsujikawa, A
Yamashiro, K
Keywords: blindness
disease incidence
eye disease
gene
genome
risk
vision
Article
blindness
CCDC102B gene
choroid
ethnicity
gene
gene expression
gene replication
genetic risk
genetic susceptibility
genome-wide association study
high myopia
human
intron
low vision
retina maculopathy
retinal pigment epithelium
risk assessment
single nucleotide polymorphism
adult
aged
Asian continental ancestry group
blindness
cohort analysis
complication
ethnology
female
genetic predisposition
genetics
Japan
low vision
male
metabolism
middle aged
myopia
pathology
retina macula lutea
Adult
Aged
Asian Continental Ancestry Group
Blindness
Choroid
Cohort Studies
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Japan
Macula Lutea
Male
Middle Aged
Myopia
Polymorphism, Single Nucleotide
Retinal Pigment Epithelium
Vision, Low
Issue Date: 2018
Publisher: Nature Publishing Group
Citation: Hosoda, Y, Yoshikawa, M, Miyake, M, Tabara, Y, Shimada, N, Zhao, W, Oishi, A, Nakanishi, H, Hata, M, Akagi, T, Ooto, S, Nagaoka, N, Fang, Y, Kawaguchi, T, Setoh, K, Takahashi, Y, Kosugi, S, Nakayama, T, Ohno-Matsui, K, Cheng, C.-Y, Saw, S.M, Yamada, R, Matsuda, F, Tsujikawa, A, Yamashiro, K (2018). CCDC102B confers risk of low vision and blindness in high myopia. Nature Communications 9 (1) : 1782. ScholarBank@NUS Repository. https://doi.org/10.1038/s41467-018-03649-3
Rights: Attribution 4.0 International
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 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. © 2018 The Author(s).
Source Title: Nature Communications
URI: https://scholarbank.nus.edu.sg/handle/10635/178414
ISSN: 2041-1723
DOI: 10.1038/s41467-018-03649-3
Rights: Attribution 4.0 International
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