Neto Antonio Ivo Moritz, Moura Joel Rolim de, Persuhn Darlene Camati
Ultratito Clinic, FlorianópolisSanta CatarinaBrazil.
Sao Paulo Med J. 2013;131(5):296-300. doi: 10.1590/1516-3180.2013.1315500.
Atherosclerotic disease is the leading cause of death in Brazil. It is a complex disease and its prevention involves identification and control of risk factors. Moderately increased plasma homocysteine concentration (hyperhomocysteinemia) has been considered to be a risk factor for several vascular diseases. Mutations in the methylenetetrahydrofolate reductase (MTHFR) enzyme, which is involved in homocysteine metabolism, have been investigated as potential vascular disease risk factors. G1793A polymorphism was described in 2002 and there are few studies analyzing its involvement in diseases. The objective of this study was to investigate the prevalence of G1793A polymorphism in subjects with early coronary artery disease (CAD).
Cross-sectional study with control group conducted at a private cardiology clinic and a molecular biology laboratory (Universidade do Vale do Itajaí).
We studied 74 early-onset CAD+ patients and 40 CAD- individuals with normal angiography results. DNA was extracted from blood samples. Molecular data were obtained via PCR/RFLP and agarose gel electrophoresis.
The occurrence of G1793A heterozygotes was similar in the control (5%) and test (6.25%) groups, thus showing that in the population studied there was no correlation between the marker and occurrences of early CAD. There was also no association between the polymorphism and the risk factors for atherosclerosis.
The frequency of the 1793A allele in the test group (3.4%) was similar to what was found in the control individuals (2.5%). There was no correlation between G1793A polymorphism and occurrences of early CAD in this population.
动脉粥样硬化疾病是巴西的主要死因。它是一种复杂的疾病，其预防涉及风险因素的识别与控制。血浆同型半胱氨酸浓度适度升高（高同型半胱氨酸血症）被认为是多种血管疾病的风险因素。参与同型半胱氨酸代谢的亚甲基四氢叶酸还原酶（MTHFR）基因突变已被作为潜在的血管疾病风险因素进行研究。G1793A多态性于2002年被描述，很少有研究分析其与疾病的关联。本研究的目的是调查早期冠状动脉疾病（CAD）患者中G1793A多态性的患病率。
在一家私立心脏病诊所和一个分子生物学实验室（圣卡塔琳娜州立大学）进行的有对照组的横断面研究。
我们研究了74例早发CAD+患者和40例血管造影结果正常的CAD-个体（对照组）。从血样中提取DNA。通过聚合酶链反应/限制性片段长度多态性分析（PCR/RFLP）和琼脂糖凝胶电泳获得分子数据。
对照组（5%）和试验组（6.25%）中G1793A杂合子的发生率相似，因此表明在所研究的人群中，该标志物与早期CAD的发生之间没有相关性。该多态性与动脉粥样硬化的风险因素之间也没有关联。
试验组中1793A等位基因的频率（3.4%）与对照组个体中发现的频率（2.5%）相似。在该人群中，G1793A多态性与早期CAD的发生之间没有相关性。
