期刊
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
卷 59, 期 13, 页码 5542-5547出版社
ASSOC RESEARCH VISION OPHTHALMOLOGY INC
DOI: 10.1167/iovs.18-25497
关键词
central serous chorioretinopathy; genome-wide association study; Japanese; SLC7A5
资金
- Japanese Ministry of Education, Culture, Sports, Science, and Technology (MEXT) [16K20318, 16K11286, 17015018, 221S0001]
- JSPS KAKENHI [16H06277, 26253041]
- Grants-in-Aid for Scientific Research [16K20318, 16K11286] Funding Source: KAKEN
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 x 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.
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