The predictive value of factor V Leiden, prothrombin G20210A and MTHFR C677T Gene mutations on the location of venous thromboembolism

Muammer Bilici, I. Oz, S. Ilikhan, Müzeyyen Arslaner, E. Kahraman, B. Kılavuz, Zeynep Özdamar, Ş. Ertop
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Abstract

Objective:  In the present study, we aimed to consider the relation between the manifestations of venous thromboembolism (VTE) and gene mutations including factor V Leiden (FVL), prothrombin G20210A and MTHFR C677T. Methods:  One hundred and forty four patients with idiopathic VTE were enrolled in this study. The data of patients were obtained from the medical records in hospital information system. The patients were grouped according to the location of VTE. In all subjects FVL, prothrombin G20210A, and MTHFR C677T were analyzed by specific polymerase chain reactions and restriction enzymes. Univariate and multivariate analysis were used to evaluate the relation between the groups and the gene mutations including factor V Leiden (FVL), prothrombin G20210A and MTHFR C677T. Results:  The mean age of patients was 41.16 ± 13.23 years and the male / female ratio was 1.18. Among the patients with VTE, 44 (30.6%) had only DVT, 41 (28.5%) had only PE, 26 (18.1%) had both DVT and PE, 23 (16%) had cerebral veins thrombosis (CVT) and 10 (6.9%) had abdominal vein thrombosis The prevalence was found to be 46.5% for FVL, 13.2% for prothrombin G20210A and 45.1% for MTHFR C677T gene mutation among patients. There was no statistically difference between the manifestations of VTE regarding the gene mutations (p>0,05). Conclusion:  The findings of this study suggest that gene mutations including factor V Leiden (FVL), prothrombin G20210A and MTHFR C677T are not sufficient to determine the location of VTE. Key words:  Venous thromboembolism; factor V Leiden; prothrombin G20210A; MTHFR C677T
V Leiden因子、凝血酶原G20210A、MTHFR C677T基因突变对静脉血栓栓塞位置的预测价值
目的:本研究旨在探讨静脉血栓栓塞(VTE)的临床表现与Leiden因子(FVL)、凝血酶原G20210A、MTHFR C677T基因突变的关系。方法:144例特发性静脉血栓栓塞患者入组研究。患者资料来源于医院信息系统的病历。根据静脉血栓栓塞部位进行分组。所有受试者均采用特异性聚合酶链反应和限制性内切酶分析FVL、凝血酶原G20210A和MTHFR C677T。采用单因素和多因素分析,评价各组与因子V Leiden (FVL)、凝血酶原G20210A、MTHFR C677T基因突变的关系。结果:患者平均年龄为41.16±13.23岁,男女比例为1.18。VTE患者中仅DVT 44例(30.6%),仅PE 41例(28.5%),DVT合并PE 26例(18.1%),CVT 23例(16%),腹腔静脉血栓形成10例(6.9%)。FVL患病率为46.5%,凝血酶原G20210A患病率为13.2%,MTHFR C677T基因突变患病率为45.1%。VTE在基因突变方面的表现差异无统计学意义(p < 0.05)。结论:本研究结果提示,vleiden因子(FVL)、凝血酶原G20210A、MTHFR C677T等基因突变不足以确定VTE的位置。关键词:静脉血栓栓塞;因子V莱顿;凝血酶原G20210A;MTHFR C677T
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