2015 Fiscal Year Final Research Report
Comprehensive genetic analysis of the COL4A4 gene region for lattice degeneration of the retina
| Project/Area Number |
25462725
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Yokohama City University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
MEGURO Akira 横浜市立大学, 医学研究科, 特任講師 (60508802)
MIZUKI Nobuhisa 横浜市立大学, 医学研究科, 教授 (90336579)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Keywords | 網膜格子状変性 / 遺伝子 |
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| 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 with firm vitreoretinal adherence to the margins of the lesions. Since it has been suggested that the collagen type IV alpha 4 (COL4A4) gene may contribute to the development of lattice degeneration of the retina, we performed a comprehensive genetic analysis of the COL4A4 gene region. This study found that some COL4A4 variants were significantly associated with the disease and that the strongest associated SNP is in the intron region of COL4A4.
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| Free Research Field |
眼科学
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