Aradjanski M, Djordjevic V, Pruner I, Tomic B, Gvozdenov M, Kovac M, Radojkovic D
Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
Faculty of Medicine, University of Belgrade, Serbia ; Blood Transfusion Institute of Serbia, Hemostasis Department, Belgrade, Serbia.
Balkan J Med Genet. 2015 Apr 10;17(2):43-8. doi: 10.2478/bjmg-2014-0073. eCollection 2014 Dec.
Thrombophilia is a multifactorial disorder that arises from the interaction of acquired and genetic risk factors. Despite the significant efforts made to understand the etiology of this disease, there are still a certain number of patients suffering from idiopathic thrombophilia. The aim of this study was to screen the 3' end of the prothrombin (FII) gene, which is susceptible to gain-of-function mutations due to its non canonical architecture, in patients with idiopathic thrombophilia and to determine its eventual role in the pathogenesis of thrombophilia. This study was carried out in 100 patients with idiopathic thrombophilia and 100 healthy controls. DNA variants in the 715 bp long region of the 3' end of the prothrombin gene were identified by sequencing. In our study, we detected two variants: A19911G and C20068T. The frequency of the A19911G gene variant was slightly increased in the group of patients compared to controls, however with no statistically significant difference compared to controls [odds ratio (OR) = 1.06; 95% confidence interval (95% CI) 0.53-2.13]. Heterozygous carriers of the FII C20068T gene variant were four times more frequent in patients (4.0%) than in controls (1.0%), but this difference did not reach statistical significance (OR = 4.12; 95% CI 0.45-37.57). Our findings suggest that variant A19911G is not a significant risk factor, while C20068T may represent a potential risk factor for idiopathic thrombophilia. To confirm our results, further studies should be conducted in a larger cohort of patients.
血栓形成倾向是一种由获得性和遗传风险因素相互作用引起的多因素疾病。尽管在了解这种疾病的病因方面已经做出了巨大努力，但仍有一定数量的患者患有特发性血栓形成倾向。本研究的目的是筛查凝血酶原（FII）基因的3'末端，该末端由于其非典型结构而易发生功能获得性突变，以确定其在特发性血栓形成倾向发病机制中的最终作用。本研究对100例特发性血栓形成倾向患者和100例健康对照进行。通过测序鉴定凝血酶原基因3'末端715 bp长区域的DNA变异。在我们的研究中，我们检测到两个变异：A19911G和C20068T。与对照组相比，患者组中A19911G基因变异的频率略有增加，但与对照组相比无统计学显著差异[优势比（OR）=1.06；95%置信区间（95%CI）0.53-2.13]。FII C20068T基因变异的杂合携带者在患者中的频率（4.0%）是对照组（1.0%）的四倍，但这种差异未达到统计学显著水平（OR = 4.12；95%CI 0.45-37.57）。我们的研究结果表明，变异A19911G不是一个显著的风险因素，而C20068T可能是特发性血栓形成倾向的一个潜在风险因素。为了证实我们的结果，应在更大的患者队列中进行进一步研究。
