Exome-wide Association Study for Subtypes of Age-related Macular Degeneration

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K10879
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: International University of Health and Welfare
• Principal Investigator: Mori Keisuke 国際医療福祉大学, 医学部, 教授 (90251090)
• Co-Investigator(Kenkyū-buntansha): 勝本 武志 埼玉医科大学, 医学部, 助教 (20751887) ; 堀江 公仁子 埼玉医科大学, 医学部, 教授 (90261982)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 加齢黄斑変性 / 網膜血管腫状増殖 / reticular pseudodrusen / ポリープ状脈絡膜血管症 / 遺伝子解析 / 遺伝子多型 / エクソーム解析

Outline of Final Research Achievements

Age-related macular degeneration (AMD) is a leading cause of blindness of elderly people in the developed countries. It is a complex disease with multiple specific genes and environmental risk factors. However, specific susceptible genes have been relatively unknown for two distinct subtypes of AMD, polypoidal choroidal vasculopathy and retinal angiomatous proliferation. The representative of this study participated in international joint research and found that a missense variant in FGD6 confers increased risk of PCV. FGD6 also promotes more abnormal vessel development in the mouse retina model. A genetic association study with RAP is currently under way.

Free Research Field

眼科学