Factor V Leiden and increased risk for arterial thrombotic disease in young Brazilian patients
Factor V Leiden and increased risk for arterial thrombotic disease in young Brazilian patients
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DOI：
10.1097/01.mbc.0000224846.35001.64
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发表时间：
2006-06-01
影响因子：
1.1
通讯作者：
Fernandes, Ana Paula
中科院分区：
文献类型：
--
作者：
de Paula Sabino, Adriano;Ribeiro, Daniel Dias;Fernandes, Ana Paula
凝血酶原 (FII G20210A)、亚甲基四氢叶酸还原酶 (C677T) 基因和 V 因子 Leiden (FVL) 突变对动脉血栓形成的发病机制的贡献仍存在争议。在这项研究中，通过聚合酶链反应-限制性片段长度多态性对 53 名首次出现血栓事件而非心肌梗塞的患者和 275 名居住在巴西米纳斯吉拉斯州的对照受试者进行了研究。应用优势比（OR）和X 2 检验进行统计比较。在患者和对照受试者中检测到相似的 C677T 突变频率。 3.6% 的对照受试者中存在 20210A 突变，但在缺血性中风患者中未检测到。仅在因子 V Leiden 上检测到显着差异（比值比 7.11；95% 置信区间 1.55-32.73）。我们的数据表明，在这些遗传因素中，V因子Leiden被确定为该组患者动脉血栓形成的重要危险因素。此外，我们的结果表明，与其他研究报告的发生率相比，巴西这些遗传因素的发生率存在区域差异。
The contribution of mutations in the prothrombin (FII G20210A), methylenetetrahydrofolate reductase (C677T) genes and factor V Leiden (FVL) to the pathogenesis of arterial thrombosis remains controversial. In this study, these polymorphisms were investigated by polymerase chain reaction-restriction fragment length polymorphism in a group of 53 patients that presented arterial thrombosis other than myocardial infarction as a first thrombotic event and 275 control subjects living in the state of Minas Gerais, Brazil. Odds ratio (OR) and X 2 tests were applied for statistical comparisons. Similar frequencies were detected among patients and control subjects for the C677T mutation. The 20210A mutation was present in 3.6% of the control subjects but was not detected among ischemic stroke patients. Significant differences were detected only for factor V Leiden (odds ratio 7.11; 95% confidence interval 1.55-32.73). Our data indicate that, among these genetic factors, factor V Leiden was identified as an important risk factor for arterial thrombosis in this group of patients. In addition, our results indicate regional differences in the incidence of these genetic factors in Brazil, as compared to the incidences reported in other studies.