2021 Fiscal Year Final Research Report
Understanding how genetic variants in the oxytocin receptor gene (OXTR) confer the risk of autism spectrum disorder - a genetic and molecular biology analysis
| Project/Area Number |
18K15502
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 52030:Psychiatry-related
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| Research Institution | Institute of Physical and Chemical Research |
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Principal Investigator |
LIU XIAOXI 国立研究開発法人理化学研究所, 生命医科学研究センター, 研究員 (20709216)
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| Project Period (FY) |
2018-04-01 – 2022-03-31
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| Keywords | Autism spectrum disorder / rare variant / Oxytocin receptor (OXTR) / Functional study |
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| Outline of Final Research Achievements |
We performed functional assay for missese variants in the OXTR gene and observed one variant that specifically identified in autism spectrum disorder (ASD) patients is like a gain-of-function variants. We further screened likely functional variants in large-scale whole-genome sequencing datasets.
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| Free Research Field |
遺伝学関連
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| Academic Significance and Societal Importance of the Research Achievements |
本研究では、オキシトシンの希少バリアントを網羅的にスクリーニングし、OXTRの転写活性と関連する可能性のある機能バリアントを同定しました。
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