2017 Fiscal Year Final Research Report
Next-generation sequencing in familial aggregated young-onset diabetes
| Project/Area Number |
16K19534
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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 |
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| Project Period (FY) |
2016-04-01 – 2018-03-31
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| Keywords | 糖尿病 / 遺伝子 |
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| Outline of Final Research Achievements |
The aim of this study was to clarify the genetic background of a family with multiple cases of diabetes accompanied by absolute insulin deficiency using whole-exome sequencing (WES). In a Japanese family, WES was performed in four affected members with absolute insulin deficiency and two unaffected members. I focused on variants that were shared by all of the four affected members. It was revealed that A137T in ADAMTSL3 (rs181914721) was observed more frequently in the subjects with diabetes than in the normoglycemic controls. We propose that A137T in ADAMTSL3 is a candidate mutation for susceptibility to diabetes in this family and in the Japanese population.
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| Free Research Field |
代謝学
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