Division of Cardiology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
J Korean Med Sci. 2013 Jul;28(7):1021-6. doi: 10.3346/jkms.2013.28.7.1021. Epub 2013 Jul 3.
Mutation or common intronic variants in cardiac ion channel genes have been suggested to be associated with sudden cardiac death caused by idiopathic ventricular tachyarrhythmia. This study aimed to find mutations in cardiac ion channel genes of Korean sudden cardiac arrest patients with structurally normal heart and to verify association between common genetic variation in cardiac ion channel and sudden cardiac arrest by idiopathic ventricular tachyarrhythmia in Koreans. Study participants were Korean survivors of sudden cardiac arrest caused by idiopathic ventricular tachycardia or fibrillation. All coding exons of the SCN5A, KCNQ1, and KCNH2 genes were analyzed by Sanger sequencing. Fifteen survivors of sudden cardiac arrest were included. Three male patients had mutations in SCN5A gene and none in KCNQ1 and KCNH2 genes. Intronic variant (rs2283222) in KCNQ1 gene showed significant association with sudden cardiac arrest (OR 4.05). Four male sudden cardiac arrest survivors had intronic variant (rs11720524) in SCN5A gene. None of female survivors of sudden cardiac arrest had SCN5A gene mutations despite similar frequencies of intronic variants between males and females in 55 normal controls. Common intronic variant in KCNQ1 gene is associated with sudden cardiac arrest caused by idiopathic ventricular tachyarrhythmia in Koreans.
心脏离子通道基因突变或常见的内含子变异与特发性室性心动过速引起的心脏性猝死有关。本研究旨在寻找韩国结构性正常心脏的特发性室性心动过速导致心脏骤停患者的心脏离子通道基因突变，并验证韩国人心律失常性特发性室性心动过速与心脏离子通道常见遗传变异之间的关联。研究参与者为韩国特发性室性心动过速或室颤引起的心脏骤停幸存者。通过 Sanger 测序对 SCN5A、KCNQ1 和 KCNH2 基因的所有编码外显子进行分析。共纳入 15 例心脏骤停幸存者。3 名男性患者 SCN5A 基因突变，KCNQ1 和 KCNH2 基因均无突变。KCNQ1 基因内含子变异（rs2283222）与心脏骤停显著相关（OR 4.05）。4 名男性心脏骤停幸存者 SCN5A 基因内含子变异（rs11720524）。尽管在 55 例正常对照中，男性和女性的内含子变异频率相似，但所有女性心脏骤停幸存者均无 SCN5A 基因突变。韩国人心律失常性特发性室性心动过速与 KCNQ1 基因常见内含子变异有关。
