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

2016 Fiscal Year Final Research Report

• 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(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
• Keywords: フックス角膜内皮ジストロフィ / 角膜内皮

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.

Free Research Field

眼科学