Faculty of Medicine, Department of Medical Genetics, Afyon Kocatepe University, Afyonkarahisar, Turkey.
Mol Biol Rep. 2012 Sep;39(9):9257-64. doi: 10.1007/s11033-012-1799-1. Epub 2012 Jul 3.
The aim of the study was to investigate relationship between polymorphisms in genes that are clinical and environmental features and the risk of myocardial infarction (MI) in Afyonkarahisar subjects living in Turkey. Prevalence of the several genes polymorphisms, ≤45 (42.04 ± 3.3) and ≥46 (57.19 ± 7.5) years were studied in individuals with MI and without MI (40.30 ± 9.01) individuals were studied. We tested 140 with MI individuals for factor V (FV) Leiden, FV H1299R, Prothrombin G20210A, factor XIII (FXIII) V34L, β-fibrinogen b-455G/A, plasminogen activator inhibitor-1 (PAI-1)-675 4G/5G, human platelet antigens 1 (HPA-1) a/b, apolipoprotein B (ApoB) R3500Q, apolipoprotein E (ApoE), E2, E3, and E4, angiotensin-converting enzyme (ACE) D/I, 5,10 methylenetetrahydrofolate reductase (MTHFR) 677C/T, and MTHFR 1298A/C polymorphisms using a ViennaLab CVD strip assay. This study results were compared without MI control groups. According to the our results, prothrombin, factor XIII and MTHFRC677T deletions were the most frequent genetic variants in risk groups of hyperlipidemic patients (value of odds ratio sequentially [OR] = 4.5, p = 0.05, [OR] = 2.16, p = 0.04 and [OR] = 2.8, p = 0.09). MTHFRA1298C and PAI-1 deletions were most frequent genetic variants in risk groups for MI in patients with diabetes mellitus (value of odds ratio sequentially [OR] = 3.79, p = 0.06 and [OR] = 5 × 10(8), p = 0.000). ACE deletions were positively associated with family history of cardiovascular events (OR = 3.62, p = 0.03). We found a strong relationship between genetic variants and risk factors. Significant associations between genetic variants predicting cardiovascular events and common risk factors (hyperlipidemia, smoking, diabetes mellitus and family history) patients were found.
本研究旨在探讨基因多态性与临床和环境特征以及心肌梗死（MI）风险之间的关系，这些基因位于居住在土耳其阿菲永卡拉希萨尔的个体中。研究了 MI 患者和无 MI 患者（40.30 ± 9.01 岁）中 ≤45 岁（42.04 ± 3.3 岁）和 ≥46 岁（57.19 ± 7.5 岁）的几种基因多态性的患病率。我们对 140 名 MI 患者进行了因子 V（FV）Leiden、FV H1299R、凝血酶原 G20210A、因子 XIII（FXIII）V34L、β-纤维蛋白原 b-455G/A、纤溶酶原激活物抑制剂-1（PAI-1）-675 4G/5G、人血小板抗原 1（HPA-1）a/b、载脂蛋白 B（ApoB）R3500Q、载脂蛋白 E（ApoE）E2、E3 和 E4、血管紧张素转换酶（ACE）D/I、5,10 亚甲基四氢叶酸还原酶（MTHFR）677C/T 和 MTHFR 1298A/C 多态性的检测使用 ViennaLab CVD 条带测定法。将本研究结果与无 MI 对照组进行比较。根据我们的结果，凝血酶原、因子 XIII 和 MTHFRC677T 缺失是高脂血症患者高危人群中最常见的遗传变异（比值比[OR]依次为 4.5，p = 0.05、[OR]为 2.16，p = 0.04 和 [OR] = 2.8，p = 0.09）。MTHFRA1298C 和 PAI-1 缺失是糖尿病患者 MI 高危人群中最常见的遗传变异（比值比[OR]依次为 3.79，p = 0.06 和 [OR] = 5×10（8），p = 0.000）。ACE 缺失与心血管事件家族史呈正相关（OR = 3.62，p = 0.03）。我们发现遗传变异与危险因素之间存在很强的关系。在预测心血管事件的遗传变异与常见危险因素（高脂血症、吸烟、糖尿病和家族史）患者之间发现了显著的相关性。
