Martins J V M, Rodrigues D A, Silva K S F, Costa I R, Lagares M H, Campedelli F L, Barbosa A M, Morais M P, Moura K K V O
Departamento de Biomedicina, , , Brasil.
Núcleo de Pesquisa Replicon, , , Brasil.
Genet Mol Res. 2017 Jul 6;16(3):gmr-16-03-gmr.16039620. doi: 10.4238/gmr16039620.
Atherosclerosis is a chronic inflammatory disease formed by the accumulation of lipids in the innermost layer and large-caliber artery (tunica intima). This accumulation, along with platelet factors, stimulates the proliferation of muscle cells in this region. Over than 400 genes may be related to the pathology since they regulate endothelial function, coagulation, inflammation, metabolism of amino acids, lipids, and carbohydrates. Glutathione S-transferases (GST) are enzymes that catalyze the polymorphic detoxification of metabolites produced by oxidative stress within the cells, which is induced by reactive oxygen species. GSTs are one of the defense mechanisms against oxidative stress damage. Due to genetic, cultural, and environmental factors, the rate of atherosclerosis is higher; however, an early diagnosis is crucial for the prevention and treatment of several complications related to the disease. The present study aimed to analyze the frequency of GSTT1 genotypes regarding the presence or absence of the polymorphism in patients with clinical manifestation of atherosclerosis. We collected 200 samples of peripheral blood of patients with the previous diagnosis of atherosclerosis based on clinical examination and imaging, and 100 samples of peripheral blood to compose the control group of patients without clinical manifestation of atherosclerosis. The polymorphism was assessed by PCR and analyzed on the agarose gel stained with 2.0% ethidium bromide. The frequency of the GSTT1 gene polymorphism was compared using the chi-square test (P < 0.05) and the G-test. In the case group, we detected 85.5% of patients with the GSTT1 genotype present and 14.5% of patients with the null genotype. A significant difference was observed between groups (case vs control) for the presence of the GSTT1 polymorphism. According to the analysis of the variable alcohol consumption, we found that in the case group the presence of the GSTT1 gene was higher in individuals who reported not drinking alcohol. In this study, the presence of the GSTT1 gene polymorphism in male patients with atherosclerosis was 1.5 times higher when compared to female patients. Regarding the variable time of smoking, we found that this genotype was more frequent in smokers for both case and control groups.
动脉粥样硬化是一种慢性炎症性疾病，由脂质在最内层和大口径动脉（内膜）中积聚形成。这种积聚与血小板因子一起，刺激该区域肌肉细胞的增殖。超过400个基因可能与该病理过程相关，因为它们调节内皮功能、凝血、炎症、氨基酸、脂质和碳水化合物的代谢。谷胱甘肽S-转移酶（GST）是催化细胞内由活性氧诱导的氧化应激产生的代谢产物多态性解毒的酶。GST是对抗氧化应激损伤的防御机制之一。由于遗传、文化和环境因素，动脉粥样硬化的发病率较高；然而，早期诊断对于预防和治疗与该疾病相关的几种并发症至关重要。本研究旨在分析有动脉粥样硬化临床表现的患者中GSTT1基因型多态性的频率。我们收集了200例根据临床检查和影像学先前诊断为动脉粥样硬化患者的外周血样本，以及100例外周血样本组成无动脉粥样硬化临床表现的对照组。通过PCR评估多态性，并在2.0%溴化乙锭染色的琼脂糖凝胶上进行分析。使用卡方检验（P < 0.05）和G检验比较GSTT1基因多态性的频率。在病例组中，我们检测到85.5%的患者存在GSTT1基因型，14.5%的患者为无效基因型。在GSTT1多态性的存在方面，两组（病例组与对照组）之间观察到显著差异。根据对可变饮酒量的分析，我们发现病例组中报告不饮酒的个体中GSTT1基因的存在率更高。在本研究中，患有动脉粥样硬化的男性患者中GSTT1基因多态性的存在率是女性患者的1.5倍。关于可变吸烟时间，我们发现该基因型在病例组和对照组的吸烟者中更为常见。
