| Project/Area Number |
17K11459
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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 |
Meguro Akira 横浜市立大学, 医学研究科, 特任准教授 (60508802)
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| Co-Investigator(Kenkyū-buntansha) |
水木 信久 横浜市立大学, 医学研究科, 教授 (90336579)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2017: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 円錐角膜 / 遺伝子 / ゲノムワイド関連解析 / GWAS / SNP / imputation / マイクロアレイ / ゲノム |
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| Outline of Final Research Achievements |
Keratoconus is a non-inflammatory corneal disorder characterized by progressive thinning of the corneal tissue, which can lead to severe visual impairment. The exact etiology of keratoconus remains uncertain, but the disease is currently thought to be triggered by various genetic and environmental factors. In this study, we performed a genome-wide association study of keratoconus using Japanese and Korean populations. This study identified several susceptibility loci, which showed genome-wide significant associations (P<5E-8) with keratoconus.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究の成果は、円錐角膜の発症機序および病態の全容解明の一助となることが期待されます。また、本研究の遺伝情報は、円錐角膜の迅速な遺伝子診断構築の基礎となり、患者への早期の適切な治療を可能にする。円錐角膜の早期発見・早期治療は、円錐角膜患者の予後を改善し、本症による重篤例の低下を促すと考えられる。さらに、遺伝要因を介した円錐角膜の形成機序が解明されれば、遺伝要因を対象とした新規治療薬の開発も可能になり、その医学的意義は大変高いといえる。
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