Identification of genetic determinants associated with central serous chorioretinopathy

2015 Fiscal Year Final Research Report

• Project/Area Number: 26861446
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Ophthalmology
• Research Institution: Kyoto University
• Principal Investigator: NAKANISHI Hideo 京都大学, 医学(系)研究科(研究院), 助教 (80724278)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 中心性漿液性脈絡網膜症 / 全ゲノム関連解析 / 脈絡膜厚 / 一塩基多型

Outline of Final Research Achievements

Central serous chorioretinopathy (CSCR) is characterized by serous detachment of central retina and diffusely thickened choroid, which can be complicated by age-related macular degeneration (AMD).
We performed genome-wide association study (GWAS) to identify genetic determinants associated with CSCR (250 cases/2,908 controls in the first stage and 143 cases/1,656 controls in the second stage). The first stage GWAS showed possible associations between single nucleotide polymorphisms (SNPs) nearby VPS11 gene at chromosome 11 and development of CSCR (P = 1.1x10-8); however, the associations were not replicated in the second stage (P = 0.13). We also performed quantitative trait locus (QTL) analysis using subfoveal choroidal thickness of 646 AMD cases. The QTL analysis suggested an association between ARMS2/HTRA1 gene locus and subfoveal choroidal thickness (P <5.0×10-8). The AMD subgroup with thickened choroid as CSCR showed lower genetic susceptibility to AMD than that of typical AMD.

Free Research Field

眼科