| Project/Area Number |
15K15385
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Tohoku University |
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Principal Investigator |
Kure Shigeo 東北大学, 医学系研究科, 教授 (10205221)
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| Co-Investigator(Kenkyū-buntansha) |
冨永 悌二 東北大学, 医学系研究科, 教授 (00217548)
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| Project Period (FY) |
2015-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | もやもや病 / 遺伝子検査 / リスク診断 / RNF213 / 創始者変異 / 発症リスク予測 / RNF213遺伝子 / 高頻度変異 / MMP9 / 早期介入 |
|---|
| Outline of Final Research Achievements |
Moyamoya dissease is characterized by stenosis of occlusion of terminal portion of bilateral carotid artery and development of fine capillary vessel network. Development of test for risk evaluation for moyamoya disease would be desired for improvement of prognosis by the bypass operation. We have identified the founder variant of c.14576G>A in RNF213 gene,which increases risk for moyamoya disease by 190 hold (J Hum Genet, 2011). In this study we developed a simple and rapid genetic test for detection of c.14576G>A in RNF213 gene. We also evaluated the efficiency of combination test of the c.14576G>A genotyping and the blood MMP9 level. This combo did not increased the efficiency of risk evaluation compared with the genotyping alone. A new biomarker would be necessary for better prediction of moyamoya disease.
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