Department of Pulmonary Diseases, Baskent University School of Medicine, Ankara, Turkey.
Clin Appl Thromb Hemost. 2011 Nov-Dec;17(6):E87-94. doi: 10.1177/1076029610385224. Epub 2010 Nov 15.
Venous thromboembolism (VTE) is a universal health hazard. Inherited and acquired risk factors increase the risk of VTE. We evaluated the relationship between factor V (G1691A, A1090G, and A1299G), prothrombin (PT G20210A), methylenetetrahydrofolate reductase (MTHFR C677T) mutations, plasminogen activator inhibitor 1 (PAI-1 -675) polymorphism, and VTE in Turkish population. In all, 80 patients with VTE and 104 controls were included. Heterozygous factor V Leiden (FVL) mutation was significantly higher among patients (P = .04) with allele frequency of 6.3% (P = .01). Heterozygous PT G20210A mutation was also significantly higher among patients (P = .001) with allele frequency of 6.9% (P = .003). MTHFR 677TT genotype was significantly higher in patients (P = .009) with allele frequency of 23.8% (P = .005). No significant difference was found in FV A1090G and FV A1299G mutation rate as well as PAI-1 genotypes and their allele frequencies (P > .05). Thus, frequencies of FV G1691A, PT G20210A, and MTHFR C677T mutations are higher in patients with VTE. FV A1090G, FV A1299G mutations, and PAI-1 gene polymorphisms may not be a risk factor for VTE in Turkish population.
静脉血栓栓塞症（VTE）是一种普遍存在的健康危害。遗传和获得性危险因素会增加 VTE 的风险。我们评估了因子 V（G1691A、A1090G 和 A1299G）、凝血酶原（PT G20210A）、亚甲基四氢叶酸还原酶（MTHFR C677T）突变、纤溶酶原激活物抑制剂 1（PAI-1 -675）多态性与土耳其人群 VTE 之间的关系。共纳入 80 例 VTE 患者和 104 例对照者。杂合子因子 V 莱顿（FVL）突变在患者中明显更高（P =.04），等位基因频率为 6.3%（P =.01）。杂合子 PT G20210A 突变在患者中也明显更高（P =.001），等位基因频率为 6.9%（P =.003）。MTHFR 677TT 基因型在患者中明显更高（P =.009），等位基因频率为 23.8%（P =.005）。FV A1090G 和 FV A1299G 突变率以及 PAI-1 基因型及其等位基因频率无显著差异（P >.05）。因此，VTE 患者中 FV G1691A、PT G20210A 和 MTHFR C677T 突变的频率较高。FV A1090G、FV A1299G 突变和 PAI-1 基因多态性可能不是土耳其人群 VTE 的危险因素。
