2021 Fiscal Year Final Research Report
Elucidation of the pathogenesis of endometriosis based on the integrated OMICS data analyses
Project/Area Number |
19K09822
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Review Section |
Basic Section 56040:Obstetrics and gynecology-related
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Research Institution | Niigata University |
Principal Investigator |
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Co-Investigator(Kenkyū-buntansha) |
井ノ上 逸朗 国立遺伝学研究所, ゲノム・進化研究系, 教授 (00192500)
榎本 隆之 新潟大学, 医歯学系, 教授 (90283754)
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Project Period (FY) |
2019-04-01 – 2022-03-31
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Keywords | 子宮内膜症 / ゲノム / 癌関連遺伝子変異 / トランスクリプトーム / オルガノイド / アリル特異的発現 |
Outline of Final Research Achievements |
Endometriosis affects approximately 10% of adult women and causes dysmenorrhea, infertility, and even endometriosis-related ovarian cancer, thus significantly reducing women's quality of life. In this study, molecular biological analysis of endometriosis revealed that 1) loss of function of ARID1A is essential in the process of ovarian cancer development from endometriosis, and 2) cancer-related gene mutations are also observed in endometriosis, and KRAS G12V mutant allele is expressed in the endometriotic epithelium leading to activation of MAPK pathway.
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Free Research Field |
産婦人科
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Academic Significance and Societal Importance of the Research Achievements |
女性のQOLを著しく低下させる子宮内膜症の病態解明の一部、特に癌化メカニズムを分子生物学的に解明した。今後、癌関連遺伝子変異プロファイルを用いて子宮内膜症の癌化リスクを予測できる可能性があり、学術的意義だけでなく、社会的意義も大きいと考えられる。
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