2018 Fiscal Year Final Research Report
Development of prediction model for cardiovascular diseases and novel therapeutic methods
Project/Area Number |
16K01838
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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 |
Applied health science
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Research Institution | Tokyo Medical University |
Principal Investigator |
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Research Collaborator |
HARA KAZUO
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Project Period (FY) |
2016-04-01 – 2019-03-31
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Keywords | ゲノム解析 / 感受性遺伝子 / 心血管疾患 |
Outline of Final Research Achievements |
DNA was extracted from patients with lifestyle-related diseases visiting our hospital, and DNA analysis was performed with a next-generation sequencer. It was suggested that, even in general lifestyle-related diseases, these genetic variations are associated with cardiovascular risk and explain at least a part of the residual risk of cardiovascular diseases. Our exome analysis identified a case with a gene mutation that were not previously reported to be associated with cardiovascular disease. Functional analysis confirmed a decrease in enzyme activity of the gene product.
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Free Research Field |
エビデンスに基づく糖尿病の管理・治療
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Academic Significance and Societal Importance of the Research Achievements |
比較的稀な単一遺伝子病の原因遺伝子に認められる高頻度の遺伝子多型が心血管疾患リスクに一定の影響を与えていることが示唆されたことで、今後症例数を増やした検討によってそれらの遺伝情報を取り入れたより精度の高い生活習慣病患者の心血管リスク評価法の開発が期待できる。また、全く予期しない遺伝子変異を同定しその機能解析から何らかの病態に関与していることが示唆された。今後更に症例数を増やした遺伝疫学的解析と、個体レベルでの機能解析を組み合わせることによって、心血管疾患発症における役割の解明のみならず新規治療法の開発につながることが期待される。
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