心肌细胞RyR2和L型钙通道的基因变异与室性心律失常和心源性猝死的相关性

doi:10.3969/j.issn.1000-8535.2015.04.002

广州医药 ›› 2015, Vol. 46 ›› Issue (4): 6-8.DOI: 10.3969/j.issn.1000-8535.2015.04.002

心肌细胞RyR2和L型钙通道的基因变异与室性心律失常和心源性猝死的相关性

黎镇赐, 罗义, 刘震, 吕婧, 李韶南, 黄建楷, 孙少喜, 吴天源

广州医科大学附属广州市第一人民医院心血管内科(广州 510180)

收稿日期:2015-03-16 发布日期:2021-11-30
基金资助:
广州市医药卫生科技项目(20121A011039)

Correlation in genetic variation of cardiomyocytes RyR2/L-type calcium channels and ventricular arrhythmias/sudden cardiac death

Li Zhenci, Luo Yi, Liu Zhen, et al

Department of Cardiology,Guangzhou First People's Hospital, Guangzhou Medical University, Guangzhou 510180,China

Received:2015-03-16 Published:2021-11-30

摘要/Abstract

摘要： 目的探讨心肌细胞RyR2和L型钙通道的基因变异与室性心律失常和心源性猝死的相关性。方法回顾分析2010年1月—2012年12月在我院就诊的慢性心力衰竭患者622例的临床资料,并选取同一时期体检中心体检的健康人群516例作为对照组,门诊或者电话随访记录慢性心力衰竭患者的死亡为终点,通过候选基因分析可能具有相关功能的4个基因变异,rs41315858(G1885E)、rs3766871(G1886S)、rs790896(G>A)和rs723672(T>C),采用Logestic、Cox回归分析对4个候选基因变异进行相关性研究。结果入选622例慢性心力衰竭患者和516例对照组,基因分析结果显示RyR2上的基因变异rs376687lA等位基因携带可以增加慢性心力衰竭患者发生室性心律失常的风险性;校正可能与该疾病相关的危险因素后,rs376687lA等位基因携带会增加心源性死亡和心源性猝死的风险,RyR2上的基因变异rs790896A等位基因携带可以降低心源性猝死风险。结论 RyR2上的基因变异rs376687lA是室性心律失常和心源性猝死的遗传学预测因子,而rs790896A等位基因是慢性心力衰竭患者的保护因子,可降低室性心律失常和心源性猝死的风险。

关键词: 慢性心力衰竭, 室性心律失常, 心源性猝死, 遗传变异, L型钙通道

Abstract: Objective To investigate the myocardial cells RyR2 and L-type calcium channel gene variants with ventricular arrhythmias and sudden cardiac death correlation. Methods Retrospective analysis of patients with chronic heart failure from January 2010 to December 2012 in our hospital including 622 cases of clinical data, and to select 516 cases of healthy people in medical examination center during the same period as a control group.Clinic or telephone follow-up recorded chronic patients with heart failure and sudden death acting as end. We analyzed possible candidate genes, according to four gene variants related functions, rs41315858 (G1885E), rs3766871 (G1886S), rs790896 (G> A) and rs723672 (T> C), by using Logestic, Cox regression analysis of four candidate gene variants for related research. Results 622 cases of chronic heart failure patients were enrolled and 516 patients in the control group. Genetic analysis showed that the gene variant alleles carried rs376687lA RyR2 may increase in patients with chronic heart failure ventricular arrhythmia risk; correction may be associated with the disease after risk factors, rs376687lA allele carries an increased risk of cardiogenic death and sudden cardiac death, and gene mutation alleles carried on rs790896A RyR2 can reduce the risk of sudden cardiac death. Conclusion Gene mutation rs376687lA RyR2 on genetics is predictor of ventricular arrhythmias and sudden cardiac death, and rs790896A allele is protective factor in patients with chronic heart failure which can be reduced ventricular arrhythmias and sudden cardiac death in risk.

Key words: Chronic heart failure, Ventricular arrhythmias, Sudden cardiac death, Genetic variation, L-type calcium channels

黎镇赐, 罗义, 刘震, 吕婧, 李韶南, 黄建楷, 孙少喜, 吴天源. 心肌细胞RyR2和L型钙通道的基因变异与室性心律失常和心源性猝死的相关性[J]. 广州医药, 2015, 46(4): 6-8.

Li Zhenci, Luo Yi, Liu Zhen, et al. Correlation in genetic variation of cardiomyocytes RyR2/L-type calcium channels and ventricular arrhythmias/sudden cardiac death[J]. Guangzhou Medical Journal, 2015, 46(4): 6-8.

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心肌细胞RyR2和L型钙通道的基因变异与室性心律失常和心源性猝死的相关性

Correlation in genetic variation of cardiomyocytes RyR2/L-type calcium channels and ventricular arrhythmias/sudden cardiac death

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