2016 Fiscal Year Final Research Report
Identification and characterization of susceptible genes to type 1 diabetes using in the clustered family
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 |
Section | 一般 |
Research Field |
Metabolomics
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Research Institution | Kindai University |
Principal Investigator |
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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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Keywords | 1型糖尿病 / 遺伝因子 |
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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Free Research Field |
糖尿病学
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