Thrombophilia is a hypercoagulable state that may have a genetic basis (inherited) or can be acquired. It is a multifactorial condition and only the mutual interactions between the environment and genes may lead to the development of clinical manifestation. This state is the main factor promoting venous (rarely arterial) thromboembolism (VTE). Inherited thrombophilia is mainly associated with two pathogenic variants in the V coagulation factor (FV) and the prothrombin (FII) genes. The aim of our study was to evaluate the frequency of two pathogenic variants in FII and FV genes as inherited thrombophilia factors in a group within the Polish population in comparison with other described populations. All studied groups consisted of 633 unrelated patients aged between 18 and 70. Individuals in the research group come from the Podlasie region of Poland. Genotyping of FII and FV variants was performed using the 7900HT Fast Real-Time PCR System and were genotyped by TaqMan assay. The pathogenic allele frequency for A allele was 0.03 (3%) and 0.07 (7%) for FII and FV genes, respectively. The GA/AA genotypes (c.*97G > A variant) were observed in only 33 (5.03%) individuals in the studied group. Additionally, the frequency of GA/AA genotypes was over 17.4% in the coagulation factor V. Co-incidence of heterozygous genotype GA of variants FII and FV genes was observed in only 4 subjects. The FII gene variant shown in our study is less frequent than in other European countries (about 6%). In contrast, the A allele of the FV gene occurs with a frequency similar to that of Northern, Central and South Central Europe (about 5%).

中文翻译：

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血栓形成倾向相关基因变异的频率：基于人群的研究

血栓形成倾向是一种高凝状态，可能有遗传基础（遗传）或后天获得。它是一种多因素疾病，只有环境和基因之间的相互作用才可能导致临床表现的发生。这种状态是促进静脉（很少发生动脉）血栓栓塞（VTE）的主要因素。遗传性血栓形成倾向主要与 V 凝血因子 (FV) 和凝血酶原 (FII) 基因的两种致病性变异有关。我们研究的目的是评估波兰人群中 FII 和 FV 基因中两种致病性变异作为遗传性血栓形成倾向因素的频率，并与其他描述的人群进行比较。所有研究组均由 633 名年龄在 18 岁至 70 岁之间的无关患者组成。研究组中的个体来自波兰波德拉谢地区。使用 7900HT 快速实时 PCR 系统对 FII 和 FV 变体进行基因分型，并通过 TaqMan 测定进行基因分型。FII 和 FV 基因的 A 等位基因的致病等位基因频率分别为 0.03 (3%) 和 0.07 (7%)。研究组中仅 33 名 (5.03%) 个体观察到 GA/AA 基因型（c.*97G > A 变体）。此外，凝血因子V中GA/AA基因型的频率超过17.4%。仅在4名受试者中观察到变体FII和FV基因的杂合基因型GA同时出现。我们的研究中显示的 FII 基因变异比其他欧洲国家出现的频率要低（约 6%）。相比之下，FV 基因的 A 等位基因的出现频率与北欧、中欧和中南欧相似（约 5%）。