Clinical and genomic analyses of age-related macular degeneration in Okinawa Prefecture

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K09746
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56060:Ophthalmology-related
• Research Institution: University of the Ryukyus
• Principal Investigator: Koizumi Hideki 琉球大学, 医学(系)研究科(研究院), 教授 (20551500)
• Co-Investigator(Kenkyū-buntansha): 寺尾 信宏 琉球大学, 医学(系)研究科(研究院), 客員研究員 (80827361)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: 加齢黄斑変性 / 沖縄 / 画像診断 / 遺伝子 / 脈絡膜

Outline of Final Research Achievements

We conducted a comprehensive collection of background factors and ophthalmologic examination data on neovascular age-related macular degeneration (AMD) in roots in Okinawa Prefecture. Simultaneously, AMD-related gene polymorphisms were analyzed in blood samples. The results showed that the frequency of each subtype of macular neovascularization, the sex ratio, the frequency of binocular onset, and the frequency of drusen in unaffected fellow eyes were similar to those previously reported in mainland Japan. The frequencies of risk alleles for AMD-related genes, CFH and ARMS2, were also similar to those previously reported in mainland Japan. In conclusion, the characteristics of neovascular AMD in Okinawa Prefecture were similar to those in mainland Japan, and the inclusion of Okinawans in the mainland Japan cohort in an epidemiological study did not seem to have a significant impact on the results.

Free Research Field

眼科学

Academic Significance and Societal Importance of the Research Achievements

沖縄県民は日本本土と遺伝学的背景が異なり、加えて眼球解剖学的にも短眼軸眼・遠視眼が多いことが知られている。また、加齢黄斑変性（AMD）発症危険因子である喫煙率が高く、飲酒量も多く、近年は食生活の欧米化も顕著である。加えて紫外線曝露量も高いと考えられ、日本本土とは異なるAMDの病態メカニズム、臨床的特徴を有するとの仮説を立て、網羅的な解析を行った。結果、沖縄県のAMDは臨床的にもゲノム学的にも日本本土と同様であることが明らかとなった。従って、AMD疫学研究において、日本本土のコホートに沖縄県民を含めることは結果にバイアスを与えないと考えられる。