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Effect of genetic variant in Brugada syndrome

Research Project

Project/Area Number 18K15407
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 52010:General internal medicine-related
Research InstitutionNational Cardiovascular Center Research Institute

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)

Project Period (FY) 2018-04-01 – 2022-03-31
Project Status Completed (Fiscal Year 2021)
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)
Keywordsブルガダ症候群 / 遺伝子多型 / SCN5A / Brugada症候群 / 不整脈死
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.

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。

Report

(5 results)
  • 2021 Annual Research Report   Final Research Report ( PDF )
  • 2020 Research-status Report
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (4 results)

All 2021 2020 2019

All Journal Article (3 results) (of which Int'l Joint Research: 3 results,  Peer Reviewed: 3 results,  Open Access: 2 results) Presentation (1 results) (of which Int'l Joint Research: 1 results,  Invited: 1 results)

  • [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.
    • Journal Title

      Eur Heart J.

      Volume: 42(29) Issue: 29 Pages: 2854-2863

    • DOI

      10.1093/eurheartj/ehab254

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] High‐risk atrioventricular block in Brugada syndrome patients with a history of syncope2021

    • Author(s)
      Kamakura Tsukasa、Sacher Frederic、Yamagata Kenichiro、Haissaguerre Michel、Kusano Kengo
    • Journal Title

      Journal of Cardiovascular Electrophysiology

      Volume: 32 Issue: 3 Pages: 772-781

    • DOI

      10.1111/jce.14876

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls2020

    • Author(s)
      2.Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, et al.
    • Journal Title

      Genetics in Medicine

      Volume: 23 Issue: 1 Pages: 47-58

    • DOI

      10.1038/s41436-020-00946-5

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] Brugada syndrome - nothing, Ajmaline, ICD, or ablation2019

    • Author(s)
      Kenichiro Yamagata
    • Organizer
      2019New Zealand CSANZ
    • Related Report
      2019 Research-status Report
    • Int'l Joint Research / Invited

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Published: 2018-04-23   Modified: 2023-01-30  

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