| Project/Area Number |
17K16369
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Psychiatric science
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| Research Institution | Niigata University |
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Principal Investigator |
Hoya Satoshi 新潟大学, 医歯学系, 助教 (50748580)
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| Project Period (FY) |
2017-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2018: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2017: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 統合失調症 / 罹患双生児 / エクソーム解析 / 日本人 / 罹患二卵性双生児 / エクソーム |
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| Outline of Final Research Achievements |
To identify rare variants with strong effects on developing schizophrenia, we performed the following study. First, we performed whole exome sequence (WES) of family with an affected twin pair. We identified three de novo missense variants shared by affected twins. Next, we genotyped the three missense variants in 1,760 patients and 1,508 controls. However, all 3,268 individuals were homozygous for the reference allele of these variants. We identified three variants that may have a role in developing schizophrenia.
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| Academic Significance and Societal Importance of the Research Achievements |
統合失調症の発症に大きな影響力をもつ可能性がある、3つの変異を同定した。統合失調症の病態解明のために、今後、これらの変異の機能解析など、さらなる研究の蓄積が期待される。
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