PDF(Pubmed)
Abstract：
Background and Objectives: Tachycardia is a common cardiovascular disease. Drugs blocking β1-adrenergic receptors (ADRB1) are used in the therapy of arrhythmogenic heart diseases. Disease-related polymorphisms can be observed within the ADRB1 gene. The two most important are Ser49Gly and Arg389Gly, and they influence the treatment efficacy. The family of the cytochrome P450 system consists of the isoenzyme CYP2D6 (Debrisoquine 4-hydroxylase), which is involved in phase I metabolism of almost 25% of clinically important drugs, including antiarrhythmic drugs. A study was conducted to detect the ADRB1 and CYP2D6 gene polymorphisms. Materials and Methods: The material for the test was whole blood from 30 patients with ventricular and supraventricular tachycardia and 20 controls. The samples were obtained from the Department of Pediatric Cardiology. The first to be made was the extraction of DNA using a GeneMATRIX Quick Blood DNA Purification Kit from EURx. The selected ADRB1 and CYP2D6 gene polymorphisms were detected by high-resolution melting polymerase chain reaction (HRM-PCR) analysis. Results: Based on the analysis of melt profile data for each PCR product, the identification of polymorphisms was carried out. Heterozygotes and homozygotes were found in the examined alleles. Conclusions: The frequency of the Arg389Gly polymorphism differs statistically significantly between the control group and patients with supraventricular and ventricular arrhythmias, as well as between these two groups of patients. Moreover, the Arg389Gly polymorphism was statistically more prevalent in the group of girls with SVT arrhythmia compared to girls with VT. A few carriers of homozygous and heterozygous systems of the S49G polymorphism were detected among patients with arrhythmias, as well as control group. The percentage of individuals carrying the CYP2D6 4 allele as either homozygous or heterozygous was observed in the study and control groups. The high prevalence of the CYP2D6*4 allele carriers in both groups prompts the optimization of beta-1 blocker therapy.
摘要：
背景与目的：心动过速是一种常见的心血管疾病。阻断β1-肾上腺素能受体（ADRB1）的药物用于治疗心律失常性心脏病。在ADRB1基因中可以观察到疾病相关的多态性。最重要的两个是Ser49Gly和Arg389Gly，影响治疗效果。细胞色素P450系统家族由同工酶CYP2D6（Debrisoquine4-羟化酶）组成，参与近25%临床重要药物的I期代谢，包括抗心律失常药物.本研究检测了ADRB1和CYP2D6基因多态性。材料与方法:试验材料为30例室性和室上性心动过速患者和20例对照者的全血。样品从儿科心脏病学获得。首先要进行的是使用来自EURx的GeneMATRIX快速血液DNA纯化试剂盒提取DNA。通过高分辨率解链聚合酶链反应（HRM-PCR）分析检测所选择的ADRB1和CYP2D6基因多态性。结果：基于对每种PCR产物的熔解曲线数据的分析，进行了多态性的鉴定。在检查的等位基因中发现了杂合子和纯合子。结论:Arg389Gly多态性的频率在对照组和室上性心律失常患者中差异有统计学意义,以及这两组患者之间。此外，与室性心动过速的女孩相比,Arg389Gly多态性在室上性心动过速的女孩组中更为普遍.在心律失常患者中检测到一些S49G多态性纯合子和杂合子系统的携带者，以及对照组。在研究组和对照组中观察到携带纯合或杂合的CYP2D6等位基因的个体的百分比。两组中CYP2D6*4等位基因携带者的高患病率促使β-1受体阻滞剂治疗的优化。
