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Abstract

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.

Journal

  • Investigative Ophthalmology & Visual Science

    Investigative Ophthalmology & Visual Science 59(13), 5542-5547, 2018-11

    Association for Research in Vision and Ophthalmology (ARVO)

Codes

  • NII Article ID (NAID)
    120006550257
  • NII NACSIS-CAT ID (NCID)
    AA00683736
  • Text Lang
    ENG
  • Article Type
    journal article
  • ISSN
    0146-0404
  • Data Source
    IR 
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