Identification of novel genetic background and genotype phenotype correlation and development of personalized medicine in arrhythmia syndromes.
| Project/Area Number |
24591038
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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 |
Circulatory organs internal medicine
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| Research Institution | Niigata University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
SATO Akinori 新潟大学, 医歯学総合病院, 助教 (40600044)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| 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)
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| 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 |
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| 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.
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Report
(4 results)
Research Products
(45 results)
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[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.
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Journal Title
Int J Cardiol
Volume: 189
Pages: 1-5
DOI
Related Report
Peer Reviewed / Open Access
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[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
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Journal Title
Int J Cardiol
Volume: 172
Issue: 2
Pages: 519-522
DOI
Related Report
Peer Reviewed / Open Access
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[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
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Journal Title
Int J Cardiol.
Volume: 165
Issue: 2
Pages: e21-e23
DOI
Related Report
Peer Reviewed
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[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
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[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
