Genome-wide association study of lattice degeneration of the retina

Research Project

Project/Area Number	18K09453
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	Yokohama City University
Principal Investigator	UEMOTO Riyo 横浜市立大学, 附属病院, 講師 (40384044)
Co-Investigator(Kenkyū-buntansha)	目黒明横浜市立大学, 医学研究科, 特任准教授 (60508802) 水木信久横浜市立大学, 医学研究科, 教授 (90336579)
Project Period (FY)	2018-04-01 – 2021-03-31
Project Status	Completed (Fiscal Year 2020)
Budget Amount *help	¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000) Fiscal Year 2020: ¥390,000 (Direct Cost: ¥300,000、Indirect Cost: ¥90,000) Fiscal Year 2019: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000) Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywords	網膜格子状変性 / ゲノムワイド関連解析 / 全遺伝子発現解析 / 遺伝子 / SNP
Outline of Final Research Achievements	Lattice degeneration of the retina is a vitreoretinal disorder characterized by focal retinal thinning associated with liquefaction of the overlying vitreous gel, and firm vitreoretinal adherence to lesion margins. After posterior vitreous detachment, vitreous traction at sites of substantial vitreoretinal adhesion often leads to retinal detachment. Lattice degeneration of the retin is currently thought to be triggered by various genetic and environmental factors. In this study, we performed a genome-wide association study of lattice degeneration of the retina using a Japanese population to clarify genetic factors of the disease. This study identified several susceptibility loci, which were significantly associated with lattice degeneration of the retina, and also identified some pathogenic pathways in lattice degeneration of the retina.
Academic Significance and Societal Importance of the Research Achievements	本研究の成果は、網膜格子状変性の発症メカニズムの全容解明の一助となることが期待される。網膜格子状変性の発症メカニズムが解明されれば、特定された遺伝子またはパスウェイを対象とした新規治療薬（モノクローナル抗体、標的分子結合ペプチド、酵素阻害剤など）の開発も可能になり、その医学的意義は非常に高いと考えられる。また、本研究で特定される遺伝子およびパスウェイは網膜格子状変性のバイオマーカーとなる可能性があり、疾患の早期診断・早期治療といった臨床医学への応用に繋がることが期待される。