2018年12月1日
CCDC102B confers risk of low vision and blindness in high myopia
Nature Communications
- 巻
- 9
- 号
- 1
- 開始ページ
- 1782
- 終了ページ
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1038/s41467-018-03649-3
- 出版者・発行元
- Nature Publishing Group
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.
elucidation of the roles of CCDC102B in myopic maculopathy development may thus provide insights into preventive methods for blindness in patients with high myopia.
- リンク情報
-
- DOI
- https://doi.org/10.1038/s41467-018-03649-3
- PubMed
- https://www.ncbi.nlm.nih.gov/pubmed/29725004
- Scopus Url
- http://www.scopus.com/inward/record.url?eid=2-s2.0-85046540463&partnerID=MN8TOARS 本文へのリンクあり
- Scopus Citedby
- https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85046540463&origin=inward
- ID情報
-
- DOI : 10.1038/s41467-018-03649-3
- ISSN : 2041-1723
- eISSN : 2041-1723
- ORCIDのPut Code : 48567847
- PubMed ID : 29725004
- SCOPUS ID : 85046540463