GWAS for Japanese CSC
Miki, Akiko Kobe University
Sakurada, Yoichi University of Yamanashi
Tanaka, Koji Nihon University
Semba, Kentaro The University of Tokushima
Yuzawa, Mitsuko Nihon University
Nakatochi, Masahiro Nagoya University
Yamamoto, Ken Kurume University
Matsuo, Keitaro Aichi Cancer Center Research Institute|Nagoya University
Honda, Shigeru Kobe University|Osaka City University
central serous chorioretinopathy
genome-wide association study
PURPOSE. Central serous chorioretinopathy (CSC) is a retinal disorder that often affects the vision of middle-aged people yet the molecular mechanisms of CSC remain unknown. This study was conducted to identify genetic factors influencing individual differences in susceptibility to CSC.
METHODS. A two-stage genome-wide association study (GWAS) was conducted with a total of 320 unrelated Japanese idiopathic CSC cases and 3245 population-based controls. In a discovery stage, 137 unrelated Japanese idiopathic CSC cases and 1174 population-based controls were subjected to GWAS, followed by a replication study using an additional 183 individuals with idiopathic CSC and 2071 population-based volunteers. The results of the discovery and replication stages were combined to conduct a meta-analysis.
RESULTS. In the two-stage GWAS, rs11865049 located at SLC7A5 in chromosome 16q24.2 was identified as a novel disease susceptibility locus for CSC, as evident from the discovery and replication results using meta-analysis (combined P = 9.71 × 10−9, odds ratio = 2.10).
CONCLUSIONS. The results of the present study demonstrated that SLC7A5 might be the potential candidate gene associated with CSC, indicating a previously unidentified molecular mechanism of CSC.
Investigative Ophthalmology & Visual Science
Silverchair|The Association for Research in Vision and Ophthalmology
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License(https://creativecommons.org/licenses/by-nc-nd/4.0/).
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