• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Identification of novel genetic background and genotype phenotype correlation and development of personalized medicine in arrhythmia syndromes.

Research Project

Project/Area Number 24591038
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Circulatory organs internal medicine
Research InstitutionNiigata University

Principal Investigator

WATANABE Hiroshi  新潟大学, 医歯学総合病院, 助教 (10547558)

Co-Investigator(Kenkyū-buntansha) SATO Akinori  新潟大学, 医歯学総合病院, 助教 (40600044)
Project Period (FY) 2012-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords不整脈 / 突然死 / 遺伝子 / 心電図 / 心室細動 / 個別化医療 / 循環器病 / 遺伝性疾患 / 薬物療法 / 遺伝学 / 遺伝子変異 / 原因遺伝子 / 次世代シークエンス法 / イオンチャネル / 変異
Outline of Final Research Achievements

The purpose of this study was to identify genetic background and genotype-phenotype correlation, and then to develop personalized medicine based on genotypes and phenotypes in various arrhythmia syndromes. We found that mutations in SCN5A promoter were associated with Brugada syndrome, early repolarization syndrome, idiopathic ventricular fibrillation, sinus node dysfunction, atrioventricular block, and atrial fibrillation. With our original next generation sequencing assay, which screens about 550 genes that regulate cardiac electrophysiology, we identified multiple candidate genes in arrhythmia syndromes (Circ Arrhythmia 2014). We contributed international genome-wide association study and identified novel loci associated with Brugada syndrome (Nature Genetics 2013). The result of this study have already been clinically used for personalized medicine and life style modification in order to decrease arrhythmia events and to prevent sudden cardiac death.

Report

(4 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • 2012 Research-status Report
  • Research Products

    (45 results)

All 2015 2014 2013 2012 Other

All Journal Article (25 results) (of which Peer Reviewed: 17 results,  Open Access: 5 results,  Acknowledgement Compliant: 1 results) Presentation (20 results) (of which Invited: 18 results)

  • [Journal Article] Electrocardiographic abnormalities and risk of developing cardiac events in extracardiac sarcoidosis.2015

    • Author(s)
      Nagao S, Watanabe H, Sobue Y, Kodama M, Tanaka J, Tanabe N, Suzuki E, Narita I, Watanabe E, Aizawa Y, Minamino T.
    • Journal Title

      Int J Cardiol

      Volume: 189 Pages: 1-5

    • DOI

      10.1016/j.ijcard.2015.03.175

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Novel calmodulin mutations associated with congenital arrhythmia susceptibility.2014

    • Author(s)
      Makita N, Tsuji Y(39人中21番目)et al
    • Journal Title

      Circ Cardiovasc Genet.

      Volume: 7 Issue: 4 Pages: 466-474

    • DOI

      10.1161/circgenetics.113.000459

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] 【遺伝性不整脈の診断とマネージメント-三大陸不整脈学会Expert Consensus Statementを踏まえて-】 Expert Consensus Statementを踏まえた遺伝性不整脈の診断とマネージメント 早期再分極症候群、特発性心室細動2014

    • Author(s)
      渡部 裕, 南野 徹
    • Journal Title

      Cardiac Practice

      Volume: 25 Pages: 119-123

    • Related Report
      2014 Annual Research Report
  • [Journal Article] ゲノム科学からゲノム医療へ 不整脈のゲノム解析と臨床応用2014

    • Author(s)
      渡部 裕, 南野 徹
    • Journal Title

      血管医学

      Volume: 15 Pages: 185-191

    • Related Report
      2014 Annual Research Report
  • [Journal Article] 【遺伝性不整脈】 遺伝性不整脈診断の新たな展開と可能性 網羅的ゲノム解析,全エクソン解析,ゲノムワイド関連解析2014

    • Author(s)
      渡部 裕, 南野 徹
    • Journal Title

      呼吸と循環

      Volume: 62 Pages: 856-862

    • Related Report
      2014 Annual Research Report
  • [Journal Article] 早期再分極、早期後脱分極、遅延後脱分極の相違点2014

    • Author(s)
      渡部 裕
    • Journal Title

      日本医事新報

      Volume: N/A Pages: 856-862

    • Related Report
      2014 Annual Research Report
  • [Journal Article] 不整脈症候群と突然死の新たな機序の同定と個別化治療の確立2014

    • Author(s)
      渡部 裕
    • Journal Title

      最新医学

      Volume: 69 Pages: 1065-1074

    • Related Report
      2014 Annual Research Report
  • [Journal Article] Efficacy of bepridil to prevent ventricular fibrillation in severe form of early repolarization syndrome2014

    • Author(s)
      Katsuumi G, Shimizu W, Watanabe H, Noda T, Nogami A, Ohkubo K, Makiyama T, Takehara N, Kawamura Y, Hosaka Y, Sato M, Fukae S, Chinushi M, Oda H, Okabe M, Kimura A, Maemura K, Watanabe I, Kamakura S, Horie M, Aizawa Y, Makita N, Minamino T
    • Journal Title

      Int J Cardiol

      Volume: 172 Issue: 2 Pages: 519-522

    • DOI

      10.1016/j.ijcard.2014.01.036

    • Related Report
      2013 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Augmentation of the J wave by rapid pacing in a patient with vasospastic angina.2014

    • Author(s)
      Sato A, Watanabe H, Sonoda K, Chinushi M, Tsuda T, Izumi D, Furushima H, Minamino T.
    • Journal Title

      Int J Cardiol.

      Volume: 172 Issue: 1 Pages: e111-e113

    • DOI

      10.1016/j.ijcard.2013.12.121

    • Related Report
      2013 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Effects of flecainide on exercise-induced ventricular arrhythmias and recurrences in genotype-negative patients with catecholaminergic polymorphic ventricular tachycardia.2013

    • Author(s)
      Watanabe H, van der Werf C, Horie M. et al.
    • Journal Title

      Heart Rhythm

      Volume: 10 Issue: 4 Pages: 542-547

    • DOI

      10.1016/j.hrthm.2012.12.035

    • Related Report
      2013 Research-status Report 2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] SCN5A mutation associated with ventricular fibrillation, early repolarization, and concealed myocardial abnormalities2013

    • Author(s)
      Watanabe H, Ohkubo K, Watanabe I, Matsuyama TA, Ishibashi-Ueda H, Yagihara N, Shimizu W, Horie M, Minamino T, Makita N
    • Journal Title

      Int J Cardiol.

      Volume: 165 Issue: 2 Pages: e21-e23

    • DOI

      10.1016/j.ijcard.2012.10.074

    • Related Report
      2013 Research-status Report 2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Role of mutations in L-type calcium channel genes in brugada syndrome, early repolarization syndrome, and idiopathic ventricular fibrillation associated with right bundle branch block2013

    • Author(s)
      Watanabe H, Minamino T
    • Journal Title

      Circ J

      Volume: 77 Pages: 1689-1690

    • NAID

      10031173746

    • Related Report
      2013 Research-status Report
  • [Journal Article] Similarities and differences of clinical characteristics between Brugda syndrome and early repolarization syndrome2013

    • Author(s)
      Watanabe H, Minamino T
    • Journal Title

      Journal of Arrhythmia

      Volume: 29 Pages: 134-137

    • Related Report
      2013 Research-status Report
  • [Journal Article] Long Term Follow-up of a Pediatric Cohort with Short QT Syndrome.2013

    • Author(s)
      Villafane J, Atallah J,Horie M, et al.
    • Journal Title

      J Am Coll Cardiol.

      Volume: 61(11) Issue: 11 Pages: 1183-91

    • DOI

      10.1016/j.jacc.2012.12.025

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] A nonsynonymous polymorphism in semaphorin 3A as a risk factor for human unexplained cardiac arrest with documented ventricular fibrillation2013

    • Author(s)
      Nakano Y, Chayama K, Watanabe H, et.al
    • Journal Title

      PLoS Genet

      Volume: 9 Issue: 3 Pages: e1003366-e1003366

    • DOI

      10.1371/journal.pgen.1003366

    • NAID

      120006985866

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.2013

    • Author(s)
      Bezzina CR, Makita N(63人中31番目)et al
    • Journal Title

      Nat Genet.

      Volume: 45 Issue: 9 Pages: 1044-1049

    • DOI

      10.1038/ng.2712

    • Related Report
      2013 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Clinical characteristics and risk of arrhythmia recurrences in patients with idiopathic ventricular fibrillation associated with early repolarization.2012

    • Author(s)
      Watanabe H
    • Journal Title

      Int J Cardiol.

      Volume: 159 Issue: 3 Pages: 238-40

    • DOI

      10.1016/j.ijcard.2012.05.091

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] The cholesterol paradox in atrial fibrillation2012

    • Author(s)
      Watanabe H, Yagihara N, Aizawa Y, Kodama M, Tanabe N, Watanabe T
    • Journal Title

      Circulation Journal

      Volume: 76 Pages: 1538-1538

    • Related Report
      2012 Research-status Report
  • [Journal Article] Electrocardiographic abnormalities and risk of complete atrioventricular block2012

    • Author(s)
      Watanabe H, Makita N, et al
    • Journal Title

      Int J Cardiol

      Volume: 155 Issue: 3 Pages: 462-464

    • DOI

      10.1016/j.ijcard.2011.12.028

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Cardiac connexins, mutations and arrhythmias2012

    • Author(s)
      Delmar M, Makita N
    • Journal Title

      Curr Opin Cardiol

      Volume: (in press) Issue: 1 Pages: 163-172

    • DOI

      10.1161/circep.111.967604

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Early Repolarization and Its Modification by Preexcitation in Two Patients with Intermittent Wolff-Parkinson-White Syndrome.2012

    • Author(s)
      Hasegawa Kanae, Sato Akinori, Chinushi Masaomi, Aizawa Yoshifusa
    • Journal Title

      Pacing Clinical Electrophysiology

      Volume: - Issue: 8

    • DOI

      10.1111/j.1540-8159.2012.03360.x

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Long QT Syndrome with Nocturnal Cardiac Events Caused by a KCNH2 Missense Mutation (G604S)2012

    • Author(s)
      Sato A, Chinushi M, Suzuki H, Numano F, Hanyu T, Iijima K, Watanabe H, Furushima H
    • Journal Title

      Internal Medicine

      Volume: 51 Pages: 1857-1860

    • NAID

      130002062243

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Is the coexistence of sustained ST-segment elevation and abnormal Q waves a risk factor for electrical storm in implanted cardioverter defibrillator patients with structural heart diseases?2012

    • Author(s)
      Furushima H, Chinushi M, Iijima K, Hasegawa K, Sato A, Izumi D, Watanabe H, Aizawa Y
    • Journal Title

      Europace

      Volume: 14 Issue: 5 Pages: 675-681

    • DOI

      10.1093/europace/eur386

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Exercise-Related QT Interval Shortening with a Peaked T Wave in a Healthy Boy with a Family History of Sudden Cardiac Death2012

    • Author(s)
      Chinushi M, Sato A, Iijima K, Suzuki K, Hiroshi F, Izumi D, Watanabe H, Kanae H, Aizawa Y
    • Journal Title

      Pacing and Clinical Electrophysiology

      Volume: 35 Issue: 8

    • DOI

      10.1111/j.1540-8159.2012.03363.x

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Dynamicity of the J wave in idiopathic ventricular fibrillation with a special reference to pause-dependent augmentation of the J wave.2012

    • Author(s)
      Aizawa Y
    • Journal Title

      Journal of American College of Cardiology

      Volume: 59 Issue: 22 Pages: 1948-53

    • DOI

      10.1016/j.jacc.2012.02.028

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Presentation] Latest advances in CPVT diagnosis and management. Prevention of SCD in CPVT2014

    • Author(s)
      Watanabe H
    • Organizer
      7th Asia Pacific Heart Rhythm Society Meeting
    • Place of Presentation
      インド ニューデリー
    • Year and Date
      2014-10-30
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] Idiopathic VF (IVF), Early repolarization syndrome (ERS). Relation to Brugada sydndrome2014

    • Author(s)
      Watanabe H
    • Organizer
      7th Asia Pacific Heart Rhythm Society Meeting
    • Place of Presentation
      インド ニューデリー
    • Year and Date
      2014-10-30
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] 「遺伝性不整脈 最新の話題」 CPVTの話題2014

    • Author(s)
      Watanabe H
    • Organizer
      日本不整脈学会
    • Place of Presentation
      東京
    • Year and Date
      2014-07-25
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] 学術諮問委員会提言シンポジウム CPVTの薬物療法2014

    • Author(s)
      渡部裕
    • Organizer
      日本心電学会
    • Place of Presentation
      東京
    • Year and Date
      2014-07-23
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] Inherited Arrhythmic Syndromes: Diagnostic and Prognostic Lessons.2014

    • Author(s)
      Watanabe H
    • Organizer
      Heart Rhythm 2014, the Heart Rhythm Society's 35th Annual Scientific Sessions
    • Place of Presentation
      アメリカ サンフランシスコ
    • Year and Date
      2014-05-09
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] Ion Channel Mutations Associated with ERS and Other J Wave Syndromes2014

    • Author(s)
      Watanabe H
    • Organizer
      Heart Rhythm 2014, the Heart Rhythm Society's 35th Annual Scientific Sessions
    • Place of Presentation
      アメリカ サンフランシスコ
    • Year and Date
      2014-05-07
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] 早期再分極症候群の遺伝的背景と臨床像2012

    • Author(s)
      渡部裕
    • Organizer
      第29回日本心電学会学術集会
    • Place of Presentation
      幕張
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] Na+チャネル遺伝子異常と不整脈2012

    • Author(s)
      渡部裕
    • Organizer
      第29回日本心電学会学術集会
    • Place of Presentation
      幕張
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] J波症候群の原因遺伝子2012

    • Author(s)
      渡部裕
    • Organizer
      第29回日本心電学会学術集会
    • Place of Presentation
      幕張
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] カテコラミン感受性心室頻拍(CPVT)の基礎と臨床 CPVTの基礎2012

    • Author(s)
      渡部裕
    • Organizer
      第27回日本不整脈学会学術大会
    • Place of Presentation
      横浜
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] 次世代シークエンサーの不整脈分野への応用2012

    • Author(s)
      渡部裕
    • Organizer
      第27回日本不整脈学会学術大会
    • Place of Presentation
      横浜
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] Clinical Manifestations of J-wave Syndromes2012

    • Author(s)
      Watanabe H
    • Organizer
      Heart Rhythm 2013
    • Place of Presentation
      Boston, USA
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] Clinical and Genetic Characteristics in Idiopathic Ventricular Fibrillation Associated with Early Repolarization2012

    • Author(s)
      Watanabe H
    • Organizer
      5th Asia Pacific Heart Rhythm Society Scientific Session
    • Place of Presentation
      Taipei
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] Could New Pharmacological Treatment Replace ICD in CPVT?2012

    • Author(s)
      Watanabe H
    • Organizer
      5th Asia Pacific Heart Rhythm Society Scientific Session
    • Place of Presentation
      Taipei
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] Effects of Flecainide on Exercise-Induced Arrhythmias and Recurrences in Genotype-Negative Patients with Catecholaminergic Polymorphic Ventricular Tachycardia2012

    • Author(s)
      Watanabe H, van der Werf C, Roses-Noguer F, Adler A, Sumitomo N, Veltmann C, Rosso R, Bhuiyan ZA, Bikker H, Kannankeril PJ, Horie M, Minamino T, Viskin S, Knollmann BC, Till J, Wilde AA
    • Organizer
      Annual Meeting of American Heart Association 2012
    • Place of Presentation
      Los Angels, USA
    • Related Report
      2012 Research-status Report
  • [Presentation] Genetic Background, Clinical Characteristics, and Treatment of Early Repolarization Syndrome

    • Author(s)
      Watanabe H
    • Organizer
      18th World Congress on Heart Disease
    • Place of Presentation
      Vancouver, Canada
    • Related Report
      2013 Research-status Report
    • Invited
  • [Presentation] Gender differences in Risk Factors of Atrial Fibrillation

    • Author(s)
      Watanabe H
    • Organizer
      6th Asia Pacific Heart Rhythm Society Meeting
    • Place of Presentation
      HongKong, China
    • Related Report
      2013 Research-status Report
    • Invited
  • [Presentation] Genetics, underlying Mechanisms, and Clinical Characteristics in Early Repolarization Syndrome

    • Author(s)
      Watanabe H
    • Organizer
      6th Asia Pacific Heart Rhythm Society Meeting
    • Place of Presentation
      HongKong, China
    • Related Report
      2013 Research-status Report
    • Invited
  • [Presentation] Arrhythmia Mechanisms and Treatments of Catecholaminergic Polymorphic Ventricular Tachycardia

    • Author(s)
      Watanabe H
    • Organizer
      6th Asia Pacific Heart Rhythm Society Meeting
    • Place of Presentation
      HongKong, China
    • Related Report
      2013 Research-status Report
    • Invited
  • [Presentation] Mutations in the SCN5A Promoter associated with Brugada syndrome

    • Author(s)
      Nobue Yagihara, Hiroshi Watanabe, Stephanie Chatel, Phil Barnet, Wataru Shimizu,Minoru Horie, Jean-Jacques Schott, Connie R. Bezzina, Tohru Minamino, Naomasa Makita
    • Organizer
      European Society of Cardiology Congress 2013
    • Place of Presentation
      Amsterdam, the Netherlands
    • Related Report
      2013 Research-status Report

URL: 

Published: 2013-05-31   Modified: 2019-07-29  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi