| 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 |
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| Section | 一般 |
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| Research Field |
Circulatory organs internal medicine
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| Research Institution | Nagasaki University |
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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)
石川 泰輔 長崎大学, 医歯薬学総合研究科(医学系), 助教 (60708692)
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| Project Period (FY) |
2012-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥17,940,000 (Direct Cost: ¥13,800,000、Indirect Cost: ¥4,140,000)
Fiscal Year 2014: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2013: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2012: ¥7,150,000 (Direct Cost: ¥5,500,000、Indirect Cost: ¥1,650,000)
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| Keywords | ブルガダ症候群 / 全エクソン解析 / エクソーム解析 / GWAS / SCN10A / エクソーム / 遺伝子変異 / SCN5A / 突然死 / 遺伝子多型 / 次世代シークエンサー / イオンチャネル |
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| 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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