Identification and clinical use of susceptibility gene of central serous chorioretinopathy

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K11286
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Osaka City University (2018); Kobe University (2016-2017)
• Principal Investigator: HONDA Shigeru 大阪市立大学, 大学院医学研究科, 教授 (60283892)
• Co-Investigator(Kenkyū-buntansha): 三木 明子 神戸大学, 医学部附属病院, 助教 (10726988)
• Research Collaborator: IMOTO issei ; MITAMURA yoshinori ; SAKURADA yoichi
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: 中心性漿液性脈絡網膜症 / 遺伝子多型 / ゲノムワイド関連解析

Outline of Final Research Achievements

Two-stage genome-wide association study (GWAS) was conducted with Japanese idiopathic CSC cases and 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). These results demonstrated that SLC7A5, which codes amino-acid transporter LAT1, might be the potential candidate gene associated with CSC. LAT1 distributes at retinal pigment epithelial cells and Muller cells and may contribute the pathogenesis of CSC. Another GWAS demonstrated the association of CFH variants and choroidal thickness, but SLC7A5 did not show the association with choroidal thickness. Those findings suggest a previously unidentified molecular mechanism of CSC.

Free Research Field

眼科学

Academic Significance and Societal Importance of the Research Achievements

中心性漿液性脈絡網膜症(CSC)は30～50歳代の男性に好発する疾患であるが、その病態には不明な点が多いことから同疾患に対する予防や進行予測は困難である。本研究で明らかになったCSC感受性遺伝子の解析によって同疾患の分子生物学的病態が解明されれば、CSCの発症リスクや、脈絡膜血管新生やポリープ状脈絡膜血管症への進展が予測できる事が期待される。同時に病態に関わる分子への介入で新たな治療法が開発できる可能性もある。