| 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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| Project Status |
Completed (Fiscal Year 2021)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | Autism spectrum disorder / rare variant / Oxytocin receptor (OXTR) / Functional study / OXTR / common variant / autism / Oxytocin / Autism / oxytocin receptor / Genetics / rare variants / Oxytocin Receptor / Genetic / Association 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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| 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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