The identification and assessment of novel disease related gene for pulmonary hypertension
| Project/Area Number |
18K08183
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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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| Review Section |
Basic Section 53030:Respiratory medicine-related
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| Research Institution | International University of Health and Welfare |
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Principal Investigator |
Tamura Yuichi 国際医療福祉大学, 医学部, 教授 (00468498)
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| Project Period (FY) |
2018-04-01 – 2022-03-31
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| Project Status |
Completed (Fiscal Year 2021)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥260,000 (Direct Cost: ¥200,000、Indirect Cost: ¥60,000)
Fiscal Year 2019: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2018: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 肺高血圧症 / 疾患関連遺伝子 / 肺動脈性肺高血圧症 |
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| Outline of Final Research Achievements |
The aim of this study was to identify novel causative genes involved in the pathogenesis of pulmonary arterial hypertension (PAH) and to link them to curative therapies. In this study, we comprehensively analyzed PDE1A-related genetic variants and their clinical impact.
To conduct a comprehensive analysis of the PDE1A gene, we established an analysis method using Nanopore technology, a new-generation sequencer that can customize long reads, and conducted the analysis. The results of this analysis suggest that patients with PDE1A mutations are more responsive to PDE-5 inhibitor therapy than those with PDE1A mutations.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究は、従来の遺伝子変異の知見では説明しきれない遺伝的背景を新規に同定する目的で着手した。本邦におけるGWAS解析の結果、PAHにおける新たな疾患関連遺伝子PDE1Aが同定された。PDEファミリーは特にPDE5が肺高血圧症の発症に深く関与されていることが知られており、PDE1AもヒトのPAHにおいて関与していることを明らかにした。本研究においてPDE1Aのプロモーター領域における変異を同定し、それが治療反応性に関与していることが明らかになったことから、治療介入の方法が遺伝子変異によって異なる可能性が期待され、いわゆるprecision medicineにつながることが期待される。
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Report
(5 results)
Research Products
(63 results)
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[Journal Article] Electrocardiographic Manifestations of Immune Checkpoint Inhibitor Myocarditis2021
Author(s)
Power John R.、Alexandre Joachim、Choudhary Arrush、Ozbay Benay、Hayek Salim、Asnani Aarti、Tamura Yuichi、Aras Mandar、Cautela Jennifer、Thuny Franck、Gilstrap Lauren、Arangalage Dimitri、Ewer Steven、Huang Shi、Deswal Anita、Palaskas Nicolas L.、Finke Daniel、Lehmann Lorenz、Ederhy Stephane、Moslehi Javid、
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Journal Title
Circulation
Volume: 144
Issue: 18
Pages: 1521-1523
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Serum and Pulmonary Uric Acid in Pulmonary Arterial Hypertension2021
Author(s)
Savale L、Akagi S、Tu L、Cumont A、Thuillet R、Phan C、Le Vely B、Berrebeh N、Huertas A、Jais X、Cottin V、Chaouat A、Tromeur C、Boucly A、Jutant Etienne M、Mercier O、Fadel E、Montani D、Sitbon O、Humbert M、Tamura Y、Guignabert C
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Journal Title
European Respiratory Journal
Volume: 57
Issue: 2
Pages: 2000332-2000332
DOI
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Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Adverse events in patients with ulcerative colitis treated with indigo naturalis: a Japanese nationwide survey2019
Author(s)
Naganuma M, Sugioto S, Suzuki H, Matsuno Y, Araki T, Shimizu H, Hayashi R, Fukuda T, Nakamoto N, Iijima H, Nakamura S, Kataoka M, Tamura Y, Tatsumi K, Hibi T, Suzuki Y, Kani T, INDIGO survey Group
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Journal Title
J Gastroenterol
Volume: 54(10)
Issue: 10
Pages: 891-896
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Risk stratification and medical therapy of pulmonary arterial hypertension2019
Author(s)
Galie N, Channick RN, Frantz RP, Grunig E, Jing ZC, Moiseeva O, Preston IR, Pulido T, Safdar Z, Tamura Y, McLaughlin VV
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Journal Title
Eur Respir J
Volume: 53(1)
Issue: 1
Pages: 1801889-1801889
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Ectopic upregulation of membrane-bound IL6R drives vascular remodeling in pulmonary arterial hypertension2018
Author(s)
Tamura Yuichi, Phan Carole, Tu Ly, Le Hiress Morane, Thuillet Raphael, Jutant Etienne-Marie, Fadel Elie, Savale Laurent, Huertas Alice, Humbert Marc, Guignabert Christophe
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Journal Title
Journal of Clinical Investigation
Volume: 128(5)
Issue: 5
Pages: 1956-1970
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Presentation] Uric acid contributes to the progression of pulmonary hypertension in rodents and humans2018
Author(s)
Laurent Savale, Satoshi Akagi, Ly Tu, Raphael Thuillet, Jennifer Bordenave, Thimote Quatremare, Amelie Cumont, Carole Phan, Alice Hueretas, Marc Humbert, Yuichi Tamura, Christope Guignabert.
Organizer
ERS International Congress 2018
Related Report
Int'l Joint Research
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