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

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591038
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Circulatory organs internal medicine
• Research Institution: Niigata 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
• Keywords: 不整脈 / 突然死 / 遺伝子 / 心電図 / 心室細動 / 個別化医療

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.

Free Research Field

循環器学