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Comprihensive genetic analysis for J wave syndrome using a next-generation sequencer

Research Project

Project/Area Number 15K20894
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Laboratory medicine
Cardiovascular medicine
Research InstitutionUniversity of Tsukuba

Principal Investigator

Kuroki Kenji  筑波大学, 附属病院, 病院講師 (50726940)

Research Collaborator AONUMA KAZUTAKA  筑波大学, 医学医療系, 教授
SEKIGUCHI YUKIO  筑波大学, 医学医療系, 准教授
IGARASHI MIYAKO  筑波大学, 医学医療系, 講師
MURAKOSHI NOBUYUKI  筑波大学, 医学医療系, 講師
KYO TOSHU  筑波大学, 医学医療系, 助教
ISAKA YUMI  筑波大学, 医学医療系, 専門職員
Project Period (FY) 2015-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywords次世代シークエンサー / J波症候群 / J波症候群 / 心室細動 / 突然死 / 遺伝子
Outline of Final Research Achievements

The purpose of this study is to reveal the genetic abnormality of J wave syndrome (Brugada syndrome and early repolarization syndrome (ERS)), and to use it for the prevention and treatment of the sudden death from ventricular arrhythmias.
(1)Genetic abnormality was found in 3 of 27 patients with Brugada syndrome.
(2)Comprehensive genetic analysis was performed in 4 patients with Brugada syndrome who had no SCA5A genetic abnormality, 2 patients with ERS, and 6 patients with idiopathic ventricular fibrillation (IVF). Genetic abnormality was found in 2 IVF patients (SCN5A、TBX5), and new genetic abnormality was found in a ERS patient.

Report

(3 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report

URL: 

Published: 2015-04-16   Modified: 2018-03-22  

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