2021 Fiscal Year Final Research Report
Identification of functional variants by comprehensive analysis of coding variants for the implementation of genomic medicine
| Project/Area Number |
19H03881
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Review Section |
Basic Section 58020:Hygiene and public health-related: including laboratory approach
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| Research Institution | The University of Tokyo |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
鎌谷 洋一郎 東京大学, 大学院新領域創成科学研究科, 教授 (00720880)
松田 浩一 東京大学, 大学院新領域創成科学研究科, 教授 (90401257)
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| Project Period (FY) |
2019-04-01 – 2022-03-31
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| Keywords | SNP |
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| Outline of Final Research Achievements |
Although recent large-scale genome analyses have successively revealed a variety of disease susceptibility genes, their validation and functional significance in the Japanese population as well as their medical application have yet to be fully developed. In this study, we attempted to conduct a comprehensive genome analysis of loss of functional polymorphisms with various diseases, blood and biochemical test values, life span, and cause of death using approximately 170,000 Japanese cases. Using the high-density Imputation reference panel constructed at McGill University based on the genome information of approximately 60,000 people, we obtained information on about 50,000 functional deletion polymorphisms. We are now preparing to release these data to the public database and are analyzing the relationship between genetic variations and more than 370 diseases.
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| Free Research Field |
機能ゲノミクス
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| Academic Significance and Societal Importance of the Research Achievements |
coding variantの頻度については、人種差が知られているため、日本人を対象とした大規模な解析を実施することで、新規の疾患関連遺伝子の同定や疾患ハイリスク群のスクリーニングなどに寄与する。本研究の成果は、ゲノム医療の実現、さらには健康長寿社会の実現のための基盤情報となると期待される。Imputationデータが公開されれば、情報の利活用が可能となる。
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