目的 探讨急性心肌梗死患者细胞色素P450酶基因(cytochrome P450,family 2,subfamily C,polypeptide 19,CYP2C19)多态性与高敏C-反应蛋白(hypersensitive C-reactive protein,hs-CRP)、白细胞介素-6(interleukin- 6,IL-6)及临床预后的相关性。方法 选取2019年5月—2020年5月入住我院心血管内科的急性心肌梗死患者182例作为研究对象,研究对象均接受经皮冠脉介入术,采取RT-PCR方法进行外周全血CYP2C19基因多态性的检测,并进行分组。口服阿司匹林300 mg和氯吡格雷300 mg后次日,测定血中hs-CRP和IL-6含量,治疗后12个月内,随访主要心血管不良事件。结果 182例急性心肌梗死患者中,快代谢组(CYP2C19*1/*1)患者最多,为78例(42.8%);中等代谢组(CYP2C19*1/*2、CYP2C19*1/*3),为65例(35.7%);慢代谢型组(CYP2C19*2/*2、CYP2C19*2/*3、CYP2C19*3/*3)最少,为39例(21.5%)。与快代谢组比较,中代谢组及慢代谢组hs-CRP、IL-6水平均升高,差异有统计学意义(P<0.05);与中代谢组比较,慢代谢组患者hs-CRP、IL-6水平均升高,差异有统计学意义(P<0.05)。CYP2C19基因型与hs-CRP及IL-6呈正相关(r=0.163、0.175,P<0.05)。中代谢组、慢代谢组患者1年内主要心血管不良事件发生率高于快代谢组患者(P<0.05)。结论 CYP2C19基因型与hs-CRP及IL-6具有相关性,CYP2C19基因型为中代谢型和慢代谢型能够激活机体炎症反应,影响急性心肌梗死患者的临床预后。

Objective To explore the correlation of cytochrome P450 gene (CYP2C19) polymorphism with hypersensitive C-reaction protein (hs-CRP), interleukin-6 (IL-6) and prognosis in patients with acute myocardial infarction (AMI). Methods A total of 182 patients with AMI admitted to cardiology department from May 2019 to May 2020 were selected as the research objects, all subjects underwent percutaneous coronary intervention (PCI), and CYP2C19 gene polymorphism in peripheral blood was detected by RT-PCR, which was grouping basis. One day after taking aspirin 300 mg and clopidogrel 300 mg orally, the levels of hs-CRP and IL-6 in patients' plasma were measured. The major adverse cardiovascular events (MACE) were followed up for 12 months after treatment. Results Among 182 patients with AMI, 78 patients (42.8%) were in the fast metabolism group (CYP2C19*1/*1), 65 patients (35.7%) in medium metabolism group (CYP2C19*1/*2, CYP2C19*1/*3), 39 patients (21.5%) in the slow metabolism group (CYP2C19*2/*2, CYP2C19*2/*3, CYP2C19*3/*3).Compared with the fast metabolism group, hs-CRP and IL-6 levels in the medium and slow metabolism group were significantly higher (P<0.05); compared with the medium metabolism group, hs-CRP and IL-6 levels in the slow metabolism group were significantly increased (P<0.05). CYP2C19 genotype was positively correlated with hs-CRP and IL-6 levels (r=0.163, 0.175,P<0.05). The incidences of MACE in the medium and slow metabolism groups were higher than that in the fast metabolism group (P<0.05). Conclusion CYP2C19 genotypes were associated with hs-CRP and IL-6 levels. Medium and slow metabolism types of CYP2C19 gene can activate the inflammatory response and affect the clinical prognosis of patients with AMI.

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。

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.