Study on disease modifiers relating to TGF-beta signal pathway for aortic diseases
| Project/Area Number |
16K09486
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Cardiovascular medicine
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| Research Institution | The University of Tokyo (2018)
Tokyo University of Technology (2016-2017) |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
森崎 裕子 公益財団法人日本心臓血圧研究振興会(臨床研究施設・研究部門), 臨床遺伝科医局, 医長 (40311451)
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | 大動脈瘤 / 大動脈解離 / 遺伝性動脈疾患 / TGF-βシグナル / 病態修飾因子 / 遺伝子バリアント / 循環器 / 遺伝子 / 遺伝学 / 発現制御 / 内科 |
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| Outline of Final Research Achievements |
In this study, we performed genetic analysis by the next generation sequencer on patients with young aortic diseases based on our previous study on more than 1,500 patients and relatives. Data of these genetic data and clinical information revealed new genetic variants as pathogenic and modifying ones. Also some variants were found to be pathogenic variants in patients with specific clinical features. Based on our results with other results by foreign collaborating researchers, we are establishing clinically relevant criteria to determine pathogenic variants in genes especially relating to TGF-beta signaling pathway. These results will help for better and faster diagnosis and intervention of these aortic diseases.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究により、遺伝性大動脈疾患について、病因や病型の同定に資する遺伝子解析について、効率よく安価に実施出来る手法を確立し、その有用性を確認することができた。国内随一の検討結果であり、手法の確立と普及により、若年性（遺伝性）大動脈疾患の適切な診断と治療につながる検査手法を確立し、さらに病態修飾あるいは病型分類に関わる遺伝子バリアントの評価法の確立にもつながった。成果は国外の研究協力者との間の検討により、日本人患者の特徴の把握にもつながっており、日本の若年性大動脈疾患の医療に貢献し意義深い。
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Report
(4 results)
Research Products
(15 results)
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[Journal Article] Assessing the Accuracy of Variant Detection in Cost-Effective Gene Panel Testing by Next-Generation Sequencing.2018
Author(s)
Fujiki R, Ikeda M, Yoshida A, Akiko M, Yao Y, Nishimura M, Matsushita K, Ichikawa T, Tanaka T, Morisaki H, Morisaki T, Ohara O.
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Journal Title
J Mol Diagn.
Volume: 96
Issue: 5
Pages: 572-582
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the Montalcino Aortic Consortium.2016
Author(s)
Jondeau G, Ropers J, Regalado E, Braverman A, Evangelista A, Teixido G, De Backer J, Muiño-Mosquera L, Naudion S, Zordan C, Morisaki T, Morisaki H, Von Kodolitsch Y, Dupuis-Girod S, Morris SA, Jeremy R, Odent S, Adès LC, Bakshi M, Holman K, LeMaire S, Milleron O, Langeois M, Spentchian M, Aubart M, et al
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Journal Title
Circ Cardiovasc Genet
Volume: 9
Issue: 6
Pages: 548-558
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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