| Project/Area Number |
26860694
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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 |
Metabolomics
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| Research Institution | Kyoto University |
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Principal Investigator |
Tanaka Daisuke 京都大学, 医学(系)研究科(研究院), 助教 (50582904)
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| Co-Investigator(Renkei-kenkyūsha) |
KOIZUMI Akio 京都大学, 大学院医学研究科, 教授 (50124574)
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 糖尿病 / 全エクソンシーケンス / 次世代シークエンス |
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| Outline of Final Research Achievements |
The aim of this study was to investigate the genetic background of a family with multiple cases of diabetes using whole exome sequencing. Whole exome sequencing identified 439 non-synonymous variants present in all affected members and absent in unaffected members. After excluding common variants with minor allele frequency of >1% in SNP databases or in 105 Japanese normal controls, 16 candidate variants were selected. Among them R608H mutation in the ARHGEF11 gene might be a mutation for susceptibility to diabetes because the ARHGEF11 gene has been implicated to be involved in glucose metabolism in genetic association studies.
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