| Project/Area Number |
16K15491
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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 |
Metabolomics
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| Research Institution | National Center for Child Health and Development |
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Principal Investigator |
Fukami Maki 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 部長 (40265872)
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| Co-Investigator(Kenkyū-buntansha) |
綾部 匡之 国立研究開発法人国立成育医療研究センター, 生体防御系内科部, 研究員 (80566555)
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| Research Collaborator |
OKUNO MISAKO
USHIJIMA KIKUMI
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
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| Keywords | 遺伝子 / 疾患 / 感受性 / 糖尿病 / 疾患感受性 |
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| Outline of Final Research Achievements |
Type 1 diabetes (T1D) is a multifactorial disorder, whose genetic basis is only partly understood. Here, we performed systematic molecular analysis for Japanese patients with this condition. We employed next generation sequencing and other new technologies. As a result, we identified novel T1D -associated genes such as PTPN2 and CD101. We also clarified clinical significance of rare variants in KLF11, RFX6, and other genes as the genetic causes of T1D. Furthermore, we found that a cis-regulatory haplotype at 17q12-q21 plays a role in the early-onset type 1 diabetes. These findings expand the current understanding of the etiology of type 1 diabetes.
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| Academic Significance and Societal Importance of the Research Achievements |
1型糖尿病は、生涯にわたる治療を必要とし、また多彩な合併症を招きうる難治性疾患である。本症の発症原因には未解明の点が多い。本研究では、日本人患者における既知遺伝子変異の特徴を明らかとし、また、1型糖尿病に関与すると推測される新たな遺伝子変異を明らかとした。これらの知見は、人種特異的な1型糖尿病の発症メカニズムの解明につながる。
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