Revealing pathogenesis of Fuchs endothelial corneal dystrophy in Japanese by means of exome array

• Project/Area Number: 26462667
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Kyoto Prefectural University of Medicine
• Principal Investigator: Ueno Morio 京都府立医科大学, 医学(系)研究科(研究院), 助教 (40426531)
• Co-Investigator(Kenkyū-buntansha): 中野 正和 京都府立医科大学, 医学(系)研究科(研究院), 准教授 (70381944)
• Co-Investigator(Renkei-kenkyūsha): KINOSHITA SHIGERU 京都府立医科大学, 大学院医学研究科, 教授 (30116024) ; IKEDA YOKO 京都府立医科大学, 大学院医学研究科, 客員講師 (00433243) ; TASHIRO KEI 京都府立医科大学, 大学院医学研究科, 教授 (10263097)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000); Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
• Keywords: フックス角膜内皮ジストロフィ / 角膜内皮 / ゲノムワイド関連解析

Outline of Final Research Achievements

In order to reveal the pathogenesis of Fuchs corneal endothelial dystrophy (FECD), we genotyped the samples derived from 55 Japanese FECD patients and 445 controls and performed association analysis.
As the results, a significant variant on TCF4 gene, which was previously reported to be associated with Caucasians, was turned out to be monomorphic in Japanese. In contrast, we succeeded in obtaining a locus at 6q15 with a significant variant that seemed to be specific to the Japanese FECD patients.
Consequently, the FECD-associated locus identified in this study should provide a basis for revealing not only the molecular mechanism of FECD pathogenesis, but also the different epidemiology and/or etiology of FECD arisen from different genetic backgrounds.

Research Products

• [Presentation] フックス角膜内皮ジストロフィのゲノムワイド関連解析 (2017)
  • Author(s): 上野盛夫, 中野正和, 中川紘子, 足立博子, 徳田雄一, 池田陽子, 外園千恵, 田代啓, 木下茂
  • Organizer: 第121回日本眼科学会総会
  • Place of Presentation: 東京
• [Presentation] Genome-wide association study of Fuchs endothelial corneal dystrophy in a Japanese population (2017)
  • Author(s): Morio Ueno, Masakazu Nakano, Hiroko Nakagawa, Hiroko Adachi, Yuichi Tokuda, Yoko Ikeda, Chie Sotozono, Kei Tashiro, and Shigeru Kinoshita
  • Organizer: ARVO 2017 Annual Meeting, Seattle
  • Place of Presentation: Baltimore, MD, USA
  • Int'l Joint Research
• [Presentation] 日本人Fuchs endothelial dystrophy患者におけるゲノムワイド関連解析 (2016)
  • Author(s): 足立博子, 徳田雄市, 中川紘子, 池田陽子, 上野盛夫, 外園千恵, 木下茂, 中野正和, 田代啓
  • Organizer: 第39回日本分子生物学会年会
  • Place of Presentation: 横浜
• [Presentation] Genome-wide association study of Fuchs endothelial corneal dystrophy in a Japanese population (2016)
  • Author(s): Masakazu Nakano, Hiroko Adachi, Yuchi Tokuda, Hiroko Nakagawa, Yoko Ikeda, Morio Ueno, Chie Sotozono, Shigeru Kinoshita, and Kei Tashiro.
  • Organizer: 66th Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: Vancouver, Canada
  • Int'l Joint Research