The features of allele polymorphism of several hemostasis genes in patients with deep-vein thrombosis complicated by pulmonary embolism

Venous thromboembolism (VT) is a seriousmedical and social problem. Pulmonary embolism(PE) develops in significant proportion of deep-vein thrombosis (DVT) cases and represents themost dangerous complication of VT. Unfortunately,reliable prognostic risk factors of PE development inDVT patients are not available yet. For this purpose,we studied the features of allelic polymorphism of 16different genes involved in haemostasis regulationin DVT patients suffered from PE. The number ofgenetic variants (genotypes and their combinations)more prevalent in the “DVT+PE” group, comparedto patients with isolated DVT, was identified. Thegenetically determined tendency to increasedplatelet activation has been shown to represent animportant risk factor for PE development, especially,when combined with polymorphic genetic variantspredisposing to endothelial dysfunction. “Gene-gene interaction” analysis revealed significantdifferences between the variants increasing PE riskin DVT patients having either factor V “1691G/A”or factor II “20210G/A” mutation. Thus, the geneticvariability of haemostatic components is not a simplepredisposing factor to VT, but plays a significant rolein determining its clinical outcome, in particular, therisk of PE development after DVT.