Barbosa A M, Silva K S F, Lagares M H, Rodrigues D A, da Costa I R, Morais M P, Martins J V M, Mascarenhas R S, Campedelli F L, Moura K K V O
Departamento de Biologia, Núcleo de Pesquisas Replicon, , , Brasil.
Departamento de Biomedicina, , , Brasil.
Genet Mol Res. 2017 Sep 21;16(3):gmr-16-03-gmr.16039708. doi: 10.4238/gmr16039708.
The coronary arteriosclerotic disease is the most common cardiovascular disease. Atherosclerosis affects large- and medium-sized arteries leading to severe thrombosis or artery stenosis that could evolve to myocardial infarction, ischemic stroke, ischemic injury of kidneys and intestines, and several other life-threatening clinical manifestations. Nitric oxide has been shown to be a promising therapeutic agent against cardiovascular diseases. The eNOS gene assumes several important functions, including regulation of vascular tone and regional blood flow, the suppression of vascular smooth muscle cell proliferation, and modulation of leukocyte-endothelium interactions. The T786C polymorphism is an important point mutation, where thymine is changed to cytosine. T786C significantly reduces the activity of the eNOS promoter gene. Two hundred and ninety-seven peripheral blood samples were collected from patients with the previous diagnosis of atherosclerotic disease based on clinical examination and confirmed by imaging methods. Results were compared using the chi-square test and the G-test. In the present study, the TC genotype was more frequent in both case and control groups with no statistically significant difference. Comparing the relation TC/TT and CC genotypes in the case and control groups, there was no statistically significant difference. No significant difference was found when genotypes were analyzed regarding gender and smoking. Our results suggest a strong tendency of the T allele, in single or double dose, to be associated with atherosclerosis that was not confirmed by the scientific data.
冠状动脉粥样硬化性疾病是最常见的心血管疾病。动脉粥样硬化影响大中动脉,导致严重血栓形成或动脉狭窄,进而可能发展为心肌梗死、缺血性中风、肾脏和肠道的缺血性损伤以及其他几种危及生命的临床表现。一氧化氮已被证明是一种有前景的抗心血管疾病治疗药物。内皮型一氧化氮合酶(eNOS)基因具有多种重要功能,包括调节血管张力和局部血流、抑制血管平滑肌细胞增殖以及调节白细胞与内皮细胞的相互作用。T786C多态性是一个重要的点突变,其中胸腺嘧啶被胞嘧啶取代。T786C显著降低eNOS启动子基因的活性。基于临床检查并经影像学方法证实,从先前诊断为动脉粥样硬化疾病的患者中采集了297份外周血样本。使用卡方检验和G检验比较结果。在本研究中,TC基因型在病例组和对照组中都更常见,但差异无统计学意义。比较病例组和对照组中TC/TT与CC基因型的关系,差异无统计学意义。按性别和吸烟情况分析基因型时,未发现显著差异。我们的结果表明,单剂量或双剂量的T等位基因有与动脉粥样硬化相关的强烈趋势,但科学数据未证实这一点。