| Project/Area Number |
26461348
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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 | Kindai University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
池上 博司 近畿大学, 医学部, 教授 (20221062)
能宗 伸輔 近畿大学, 医学部, 講師 (90460849)
馬場谷 成 近畿大学, 医学部, 講師 (10449837)
廣峰 義久 近畿大学, 医学部, 講師 (30460851)
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| Research Collaborator |
MAEGAWA Hiroshi 滋賀医科大学, 医学部, 教授 (00209363)
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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 |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
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| Keywords | 1型糖尿病 / 遺伝因子 / １型糖尿病 / 遺伝子 |
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| Outline of Final Research Achievements |
More than 50 genetic loci have been associated with type 1 diabetes in multiple studies among Caucasian populations, but they have been able to explain only 70-80% of the heritability for type 1 diabetes. Rare variants with high permeability are likely to explain a part of the remaining missing heritability.
In Japan, where the prevalence of type 1 diabetes is very low, it is extremely rare for type 1 diabetes to develop in three or more siblings within a family. We found a family, in which type 1 diabetes occurred in three siblings among four sisters and the fourth sister was positive for GAD antibody but had not developed diabetes. To search the rare causative genetic variants, we performed whole-exome sequencing, using parents and four sisters. We narrowed down all exome variants to 11 candidate variants. Moreover, we performed whole-genome linkage analysis. By combining whole-exome sequencing and linkage analysis, we extracted one locus as candidate regions to type 1 diabetes.
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