2015 Fiscal Year Final Research Report
Identification of Novel Genes and Pathogenesis Responsible for Brugada Syndrome Using Whole Exome Sequencing
Project/Area Number |
24390199
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Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Partial Multi-year Fund |
Section | 一般 |
Research Field |
Circulatory organs internal medicine
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Research Institution | Nagasaki University |
Principal Investigator |
MAKITA Naomasa 長崎大学, 医歯薬学総合研究科(医学系), 教授 (00312356)
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Co-Investigator(Kenkyū-buntansha) |
MAEMURA Koji 長崎大学, 医歯薬学総合研究科(医学系), 教授 (90282649)
YOSHIURA Koichiro 長崎大学, 原爆後障害医療研究所, 教授 (00304931)
TSUJI Yukiomi 長崎大学, 医歯薬学総合研究科(医学系), 講師 (60432217)
ISHIKAWA Taisuke 長崎大学, 医歯薬学総合研究科(医学系), 助教 (50708716)
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Project Period (FY) |
2012-04-01 – 2016-03-31
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Keywords | ブルガダ症候群 / 全エクソン解析 |
Outline of Final Research Achievements |
1.We performed whole exome sequencing in 12 probands with Brugada syndrome (BrS), and found two novel responsible genes; peripheral neuronal Na channel α subunit (SCN10A), and T-type Ca channel α subunit (CACNA1H). Further screening these genes in 96 BrS cases revealed 6 rare variations in SCN10A, and 5 rare variations in CACNA1H, demonstrating that SCN10A and CACNA1H are the novel genes responsible for BrS. 2.We participated in the international collaborative GWAS which has identified two novel risk loci for BrS, SCN10A and HEY2, in addition to the well-established responsible gene SCN5A (Bezzina, Makita, et al. Nat Genet 2013). Four Japanese institutions including us performed a replication study using Japanese BrS samples. To further identify genetic risks for the lethal arrhythmias in BrS, we have focused on symptomatic BrS patients, and developed a consortium; Japanese BrS-GWAS.
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Free Research Field |
循環器内科学
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