| Project/Area Number |
26461344
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Metabolomics
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| Research Institution | International University of Health and Welfare (2015-2016)
Saitama Medical University (2014) |
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Principal Investigator |
Awata Takuya 国際医療福祉大学, 大学病院, 教授 (40184303)
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| Co-Investigator(Renkei-kenkyūsha) |
KURIHARA SUSUMU 埼玉医科大学, 医学部, 准教授 (90286104)
OKAZAKI YASUSHI 埼玉医科大学, 医学部, 教授 (80280733)
NISHIDA NAO 国立研究開発法人国立国際医療研究センター, 肝炎・免疫研究センター, 上級研究員 (50456109)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2014: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | １型糖尿病 / 疾患感受性遺伝子 / 全エクソーム解析 / ２型糖尿病 / トール様受容体 / バリアント / SNP / 変異 / 多型 / 疾患感受性 / 日本人 / 遺伝 / 自然免疫 / エクソーム解析 / 感受性 / 次世代シーケンス |
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| Outline of Final Research Achievements |
We performed whole-exosome sequencing of 21 patients with type 1 diabetes mellitus. Among the detected susceptibility variant candidates, we focused on low-frequency nonsynonymous mutations found in one gene of the Toll-like receptor (TLR) family, which is important for innate immunity. In case-control association tests including over 5000 subjects, the frequency of homozygotes of the mutation was significantly increased in patients with type 1 diabetes, and in a family of type 1 diabetes brothers, it was found that both brothers were homozygotes of this mutation. Interestingly, wild-type alleles were significantly increased in type 2 diabetes. We are currently conducting functional analysis.
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