Effect of genetic variant in Brugada syndrome
| Project/Area Number |
18K15407
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 52010:General internal medicine-related
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| Research Institution | National Cardiovascular Center Research Institute |
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Principal Investigator |
Yamagata Kenichiro 国立研究開発法人国立循環器病研究センター, 病院, 医師 (90817389)
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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 |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2021: ¥130,000 (Direct Cost: ¥100,000、Indirect Cost: ¥30,000)
Fiscal Year 2020: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2019: ¥390,000 (Direct Cost: ¥300,000、Indirect Cost: ¥90,000)
Fiscal Year 2018: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
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| Keywords | ブルガダ症候群 / 遺伝子多型 / SCN5A / Brugada症候群 / 不整脈死 |
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| Outline of Final Research Achievements |
The aim of this study is to investigate the correlation of the SCN5A single nucleotide polymorphism(SNP) and the prognosis among Brugada syndrome (BrS) patients.
We analyzed more than 1,000 BrS patients' SCN5A gene and found that 30% of them hold a SNP. The mose frequent SNP found in the study was c.87 A>G p.A29A, followed by c.3183 A>G p.E1061E and c.5457 T>C p.D1819D. However, there were no significant correlation to cardiac events and SNP according to the investigation sheet.
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| Academic Significance and Societal Importance of the Research Achievements |
ブルガダ症候群は特徴的な心電図所見を有し、特に若年に心室性不整脈から突然死を起こすことがあるため、リスクの層別化を行うことで突然死を予防する植込み型除細動器がどのような患者に必要か、または不要かをより検討できるようになる。本研究で一塩基多型と心臓イベントの既往の有無を検討した。
1000例を超える症例から一塩基多型は30%にみられ、c.87 A>G p.A29Aが最もみられた。しかし今回の調査票では臨床的な指標という観点では特記心臓イベントの増加などは確認できなかった。しかし今回得られた患者の遺伝子データを用いて、更に予後を追跡することで心臓イベント有無を検討土台が出来たと考えられる。
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Report
(5 results)
Research Products
(4 results)
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[Journal Article] Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.2021
Author(s)
Ishikawa T, Kimoto H, Mishima H, Yamagata K, Ogata S, Aizawa Y, Hayashi K, Morita H, Nakajima T, Nakano Y, Nagase S, Murakoshi N, Kowase S, Ohkubo K, Aiba T, Morimoto S, Ohno S, Kamakura S, Nogami A, Takagi M, Karakachoff M, Dina C, Schott JJ, Yoshiura KI, Horie M, Shimizu W, Nishimura K, Kusano K, Makita N.
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Journal Title
Eur Heart J.
Volume: 42(29)
Issue: 29
Pages: 2854-2863
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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