Identification of genetic determinants associated with central serous chorioretinopathy

• 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
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000); Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• 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 / ゲノムワイド関連解析 / 量的形質遺伝子座解析

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.

Research Products

• [Journal Article] 日本人の加齢黄斑変性 (2016)
  • Author(s): 吉村長久
  • Journal Title: 日本眼科学会雑誌 Volume: 120 Pages: 163-189
  • Open Access
• [Journal Article] Pachychoroid neovasculopathy and age-related macular degeneration. (2015)
  • Author(s): Miyake M, Ooto S, Yamashiro K, Takahashi A, Yoshikawa M, Akagi-Kurashige Y, Ueda-Arakawa N, Oishi A, Nakanishi H, Tamura H, Tsujikawa A, Yoshimura N.
  • Journal Title: Sci Rep. Volume: 6 Issue: 1 Pages: 16204-16204
  • DOI: 10.1038/srep16204
  • NAID: 120005758236
  • Peer Reviewed / Open Access
• [Presentation] 日本人の加齢黄斑変性 (2015)
  • Author(s): 吉村長久
  • Organizer: 日本眼科学会総会
  • Place of Presentation: 札幌
  • Year and Date: 2015-04-18