Laboratorio de Biología Molecular & Farmacogenética, Departamento de Ciencias Básicas, Facultad de Medicina, Francisco Salazar 01145, Casilla 54-D, Temuco, Chile.
Clin Chim Acta. 2010 Mar;411(5-6):444-7. doi: 10.1016/j.cca.2010.01.007. Epub 2010 Jan 10.
Recent evidence suggests that the ethnic background may determine the susceptibility to cardiovascular diseases. Considering the genetic composition of Chilean population, the aim of the present study was to evaluate the possible association between Amerindian mitochondrial DNA (mtDNA) haplogroups and venous thrombosis susceptibility and the influence on frequency of factor V 1691G>A, prothrombin 20210G>A, methylenetetrahydrofolate reductase (MTHFR) 677C>T and beta-fibrinogen -148C>T polymorphisms in Southern Chilean population.
A total of 172 individuals, 60 patients with diagnosis of deep venous thrombosis (DVT) confirmed by Doppler ultrasonography and 112 controls were included in this study. The single nucleotide polymorphisms (SNP) and the Amerindian mtDNA haplogroups were detected by PCR and PCR-RFLP techniques, respectively.
The presence of mtDNA haplogroups did not modify the thrombosis susceptibility. Of 4 SNPs genotyped, only the MTHFR 677C>T variant was more frequent in DVT patients when compared to controls (OR 3.46; 95%CI, 1.50-8.00). A lower frequency of 1691G>A (factor V) and a total absence of prothrombin 20210G>A variants were observed in subjects with Amerindian background.
The presence of Amerindian haplogroups did not modify the susceptibility to DVT in the studied subjects. Only MTHFR 677C>T polymorphism was associated to venous thrombosis in Chilean subjects. The lower frequency of factor V 1691G>A and the absence of prothrombin 20210G>A polymorphism confirm the poor utility of the molecular detection of these variants in the thrombophilia study in populations with Amerindian background.
最近的证据表明，民族背景可能决定心血管疾病的易感性。考虑到智利人口的基因构成，本研究旨在评估美洲印第安人线粒体 DNA（mtDNA）单倍群与静脉血栓形成易感性之间的可能关联，以及其对智利南部人群中因子 V 1691G>A、凝血酶原 20210G>A、亚甲基四氢叶酸还原酶（MTHFR）677C>T 和β-纤维蛋白原-148C>T 多态性频率的影响。
共纳入 172 名个体，其中 60 名经多普勒超声检查确诊为深静脉血栓形成（DVT）的患者和 112 名对照者。采用 PCR 和 PCR-RFLP 技术分别检测单核苷酸多态性（SNP）和美洲印第安人 mtDNA 单倍群。
mtDNA 单倍群的存在并未改变血栓形成的易感性。在 4 个检测的 SNP 中，只有 MTHFR 677C>T 变异在 DVT 患者中比对照组更为常见（OR 3.46；95%CI，1.50-8.00）。具有美洲印第安人背景的个体中，因子 V 的 1691G>A 频率较低，且完全不存在凝血酶原 20210G>A 变异。
在研究对象中，美洲印第安人单倍群的存在并未改变 DVT 的易感性。只有 MTHFR 677C>T 多态性与智利人群的静脉血栓形成相关。因子 V 的 1691G>A 频率较低和凝血酶原 20210G>A 多态性缺失证实了在具有美洲印第安人背景的人群中，这些变异的分子检测在血栓形成研究中的应用价值有限。
