Project/Area Number |
16K10185
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Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Psychiatric science
|
Research Institution | Niigata University |
Principal Investigator |
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Project Period (FY) |
2016-04-01 – 2019-03-31
|
Project Status |
Completed (Fiscal Year 2018)
|
Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
|
Keywords | 統合失調症 |
Outline of Final Research Achievements |
Aim: Rare variations are suggested to play a role in the genetic etiology of schizophrenia, and to further investigate their role, we performed a three-stage study. Methods: First, we performed whole-exome sequencing (WES) of two parent-affected offspring trios. Second, we sequenced the FBXO18 coding region in 96 patients. Third, we tested rare non-synonymous FBXO18 variations for association with schizophrenia in 1,376 patients and 1,496 controls. Results: A rare frameshift variation (L116fsX) in the FBXO18 gene was recurrently identified by WES in both trios. Sequencing FBXO18 coding regions, we detected three rare non-synonymous variations (V15L, L116fsX and V1006I). However, these rare FBXO18 variations were not significantly associated with and schizophrenia in the case-control study. Conclusion: Our present study does not provide evidence for the contribution of rare non-synonymous FBXO18 variations to the genetic etiology of schizophrenia in the Japanese population.
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Academic Significance and Societal Importance of the Research Achievements |
本研究では統合失調症のリスク遺伝子を同定するには至らなかった。その主な理由として、サンプル数が十分でないことがあげられる。今後は自施設でのサンプル収集をさらに進めるとともに、多施設共同研究を拡大し、日本人は遺伝的な均質性が高いという利点をいかした優れた研究デザインを組むことで、統合失調症の発症に大きな効果をもつリスク遺伝子を確定できるものと予想される。
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