Impact of SCN5A gene mutations in prognosis of left ventricular noncompaction
Project/Area Number |
20591274
|
Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Pediatrics
|
Research Institution | University of Toyama |
Principal Investigator |
ICHIDA Fukiko University of Toyama, 医学薬学研究部, 准教授 (30223100)
|
Co-Investigator(Kenkyū-buntansha) |
HIRONO Keiichi 富山大学, 医学薬学研究部, 助教 (80456384)
UESE Keiichiro 富山大学, 医学薬学研究部, 助教 (10401803)
|
Project Period (FY) |
2008 – 2010
|
Project Status |
Completed (Fiscal Year 2010)
|
Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2010: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2009: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2008: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
|
Keywords | 拡張型心筋症 / 心筋緻密化障害 / 不整脈 / SCN5A / 遺伝子解析 / 遺伝的多様性 / WPW症候群 / 突然死 |
Research Abstract |
This study was per formed to compare the frequency of SCN5A variants in LVNC patients with or without arrhythmias, and to investigate the relationship between variants and disease severity. DNA was isolated from the peripheral blood of 44 Japanese probands with LVNC, comprising familial cases and 23 sporadic cases. The frequency of SCN5A variants was significantly higher in the patients with arrhythmias than those without (50% vs 7% : P=0.0003), suggesting these variants represent a risk factor for arrhythmia and supporting the hypothesis that genes encoding ion channels are involved in LVNC pathophysiology.
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Report
(4 results)
Research Products
(79 results)
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[Journal Article] Noncompaction study collaborators. Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction.2010
Author(s)
Chang B, Momoi N, Shan L, Mitomo M, Aoyagi Y, Endo K, Takeda I, Chen R, Xing Y, Yu X, Watanabe S, Yoshida T, KaneganeH, Tsubata S, Bowles NE, Ichida F
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Journal Title
Mol Genet Metab. 100(2)
Pages: 198-203
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Peer Reviewed
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[Journal Article]2009
Author(s)
廣野恵一、市田蕗子
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Journal Title
『川崎病のすべて』インフリキシマブ療法 アクチュアル小児科(中山書店)
Pages: 112-115
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[Journal Article]2009
Author(s)
渡辺一洋、市田蕗子
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Journal Title
先天性心疾患術後の精神発達.Annual『Review循環器2009』(中外医学社)
Pages: 278-283
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[Journal Article]2009
Author(s)
市田蕗子
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Journal Title
心雑音.新生児・乳児編.周産期医学増刊号(メジカルビュー社)
Pages: 512-514
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