2020 Fiscal Year Final Research Report
Investigation of the onset and progression mechanisms of primary open-angle glaucoma -Involvement of genetic variants associated with primary open-angle glaucoma in phenotypic features-
| Project/Area Number |
18K09400
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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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| Review Section |
Basic Section 56060:Ophthalmology-related
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| Research Institution | University of Yamanashi |
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Principal Investigator |
Mabuchi Fumihiko 山梨大学, 大学院総合研究部, 医学研究員 (20322125)
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| Co-Investigator(Kenkyū-buntansha) |
柏木 賢治 山梨大学, 大学院総合研究部, 教授 (30194723)
櫻田 庸一 山梨大学, 大学院総合研究部, 准教授 (90456476)
米山 征吾 山梨大学, 大学院総合研究部, 助教 (90751652)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Keywords | 原発開放隅角緑内障 / 遺伝子多型 / 眼圧 / genetic risk score / 緑内障家族歴 / 緑内障診断時年齢 / POAG / IOP |
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| Outline of Final Research Achievements |
Genetic variants predisposing to primary open-angle glaucoma (POAG) can be classified into 2 types: 1 type involves genetic variants associated with IOP elevation (IOP-related genetic variants) and the other type involves genetic variants associated with vulnerability of the optic nerve, independent of IOP (non-IOP-related genetic variants).
In the present study, the associations between the IOP-/non-IOP-related genetic variants and family history of glaucoma as an indicator of POAG onset and age at the diagnosis of glaucoma as an indicator of POAG progression were evaluated. It was found that non-IOP-related (optic nerve vulnerability) rather than IOP-related (IOP elevation) genetic variants may play an important role in the onset of POAG (family history of glaucoma) and that IOP-related rather than non-IOP-related genetic variants may play an important role in its progression (age at the diagnosis of glaucoma).
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| Free Research Field |
眼科学 緑内障 人類遺伝学
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| Academic Significance and Societal Importance of the Research Achievements |
本研究により、POAGの発症進行メカニズムが遺伝学的により明らかとなった。これら遺伝情報の積み重ねから、将来的には緑内障になりやすい症例の発症前診断、緑内障進行リスクを遺伝学的に評価することが可能となり、早期発見治療が重要と考えられている緑内障診療の一助となるだけでなく、進行リスクに合わせた目標眼圧設定、治療法選択が可能となるかもしれない。また、個々の症例の臨床像(表現型)と遺伝背景に合わせて、最適かつ有効な治療の選択といった、いわゆるオーダーメイド医療を行える可能性もあり、より質の高い医療を提供できると共に医療経済的にも有益であると考えられ、今後の緑内障治療発展の足掛かりとなった。
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