Genetic background of ventricular tachyarrhythmias associated with acute myocardial ischemia

急性心肌缺血相关室性快速心律失常的遗传背景

• 批准号: 23591030
• 负责人: NAKAJIMA Tadashi
• 金额: $ 3.24万
• 依托单位: Gunma University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2013
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23591030/
• 关键词: 遺伝子多型; 虚血性心疾患; 致死性不整脈; イオンチャネル

We tried to elucidate the genetic background of ventricular tachyarrhythmias (VTAs) associated with acute coronary ischemia in Japanese patients. We analyzed KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A in four patients with post myocardial infarction/ischemia-associated torsades de pointes (ACS-TdP), and identified KCNQ1 G643S variant in two patients. The allele frequency of this variant is more common in Asian (about 6 %) than other ethnic groups (white: 0 %). However, it was reported to be associated with secondary long QT syndrome. In contrast, KCNH2 K897T variant, which is prevalent in Caucasian, was reported to be identified in 9 out of 13 Caucasian ACS-TdP patients. Moreover, we analyzed above genes in 8 patients who experienced VTAs associated with vasospastic angina, and identified SCN5A R1193Q, SCN5A L1988R/SCN5A H558R, KCNH2 P10S/SCN5A H558R in three patients. Our data suggest that there may be an ethnic-specific genetic background in VTAs associated with acute coronary ischemia.

我们试图阐明日本患者中与急性冠状动脉缺血相关的室性快速性心律失常（VTA）的遗传背景。我们分析了4例心肌梗死后/缺血相关尖端扭转型室性心动过速（ACS-TdP）患者的KCNQ 1、KCNH 2、KCNE 1、KCNE 2和SCN 5A，并在2例患者中鉴定了KCNQ 1 G643 S变异体。这种变异的等位基因频率在亚洲人中（约6%）比其他种族群体（白色：0%）更常见。然而，据报告与继发性长QT综合征相关。相比之下，据报告，在13例高加索ACS-TdP患者中有9例发现了在高加索人中普遍存在的KCNH 2 K897 T变体。此外，我们还对8例VTA伴血管痉挛性心绞痛患者的上述基因进行了分析，并在3例患者中鉴定出SCN 5A R1193 Q、SCN 5A L1988 R/SCN 5A H558 R、KCNH 2 P10 S/SCN 5A H558 R。我们的数据表明，与急性冠状动脉缺血相关的VTA可能存在种族特异性遗传背景。

项目成果

Mechanisms of fever-induced QT prolongation in a patient with a KCNH2 G584S mutation.

KCNH2 G584S 突变患者发烧引起 QT 延长的机制。

• 发表时间: 2014
• 作者: Kenshi Hayashi;Tadashi Nakajima;Shoichi Tange;Hidekazu;Ino;Noboru Fujino;Tetsuo Konno;Toyonobu Tsuda;Yoshihiro Tanaka;Masa-aki Kawashiri;Yoshiaki Kaneko;Masahiko Kurabayashi;Masakazu Yamagishi
• 通讯作者: Masakazu Yamagishi

本邦Brugada症候群の遺伝的異質性：遺伝子型に基づくリスク層別化およびマネジメント戦略の構築に向けて。

日本 Brugada 综合征的遗传异质性：基于基因型的风险分层和管理策略。

• 发表时间: 2012
• 作者: Hatano R;Fujii E;Segawa H(他6名);中島 忠
• 通讯作者: 中島 忠

Epimyocardium-dominant electrical impairment in a patient with cardiolaminopathy

心肌纤质病患者的心肌外膜主导的电损伤

• DOI: 10.1111/j.1540-8167.2010.01951.x
• 发表时间: 2011
• 期刊: Journal of Cardiovascular Electrophysiology
• 影响因子: 2.7
• 作者: Nakajima T;Kaneko Y;Irie T;Kurabayashi M
• 通讯作者: Kurabayashi M

Idiopathic Ventricular Fibrillation Associated with Complete Right Bundle Branch Block?

特发性心室颤动与完全性右束支传导阻滞相关吗？

• DOI: 10.2169/internalmedicine.53.1704
• 发表时间: 2014
• 期刊: Internal Medicine
• 影响因子: 1.2
• 作者: Manita M;Nakajima T;Kaneko Y;Kurabayashi M.
• 通讯作者: Kurabayashi M.

Identification of CACNA1C Variants Associated with an Inherited Arrhythmia Syndrome in Japanese Patients

日本患者中与遗传性心律失常综合征相关的 CACNA1C 变异的鉴定

• 发表时间: 2013
• 作者: Tadashi Nakajima;Yoshiaki Kaneko;Tadanobu Irie;Takafumi Iijima;Masahiko Kurabayashi
• 通讯作者: Masahiko Kurabayashi