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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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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<sup>-12</sup> and P<sub>corr</sub> = 1.61 × 10<sup>-10</sup>). In contrast, this SNP is not significantly associated with myopia itself. The association between rs11873439 and myopic maculopathy is further conf  ...[more]

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