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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| Project Status |
Completed (Fiscal Year 2021)
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| Budget Amount *help |
¥17,420,000 (Direct Cost: ¥13,400,000、Indirect Cost: ¥4,020,000)
Fiscal Year 2021: ¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2020: ¥5,850,000 (Direct Cost: ¥4,500,000、Indirect Cost: ¥1,350,000)
Fiscal Year 2019: ¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000)
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| Keywords | SNP / ゲノム医療 |
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| Outline of Research at the Start |
近年の大規模なゲノム解析によって、様々な疾患感受性遺伝子が次々と明らかとなっているが、日本人での検証や機能的意義の解明、さらに医療応用がまだ十分に進んでいない。本研究では、約17万人の日本人症例を用いて、coding variantを対象とし、①117疾患、②58の血液生化学検査値、さらに③生命予後・死因について、網羅的ゲノム解析を実施することで、上記の問題点を克服しゲノム医療の実現へ向けた基盤情報を構築することを目指す。我々の研究成果は、ゲノム解析による疾患ハイリスク群の同定や個別化検査の実施などのゲノム医療の実現、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。
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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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| 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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Report
(4 results)
Research Products
(17 results)
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[Journal Article] Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases2020
Author(s)
Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Yamaji T, et al
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Journal Title
Nature Genetics
Volume: 52
Issue: 7
Pages: 669-679
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.2018
Author(s)
Lu Y, Kweon SS, Tanikawa C, Jia WH, Xiang YB, Cai Q, Zeng C, Schmit SL, Shin A, Matsuo K, Jee SH, Kim DH, Kim J, Wen W, Shi J, Guo X, Li B, Wang N, Zhang B, Li X, Shin MH, Li HL, Ren Z, Oh JH, Oze I, Ahn YO, Jung KJ, Conti DV, Schumacher FR, Rennert G, Je
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Journal Title
Gastroenterology
Volume: 156
Issue: 5
Pages: 1455-1466
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
