Objective: Thrombosis is a multifactorial cardiovascular disorder and its genetic background is controversial. Some genetic variants may have an effect on the development of deep vein thrombosis and pulmonary thromboembolism. We aimed to analyze the distribution of MTHFR C677T and A1298C, PAI-1 -675 4G/5G and ACE I/D single nucleotide polymorphisms (SNP) in these conditions.

Material and Method: A total of 157 cases with deep vein thrombosis, 147 with pulmonary thromboembolism and 140 healthy controls participated in this study. The DNAs obtained from peripheral blood samples were screened for the aforementioned thrombophilic gene variants via reverse hybridization method (Strip Assay).

Results: There were significant differences between the cases of pulmonary thromboembolism and healthy control group for the MTHFR A1298C SNP and C allelic frequency (p =0.02 and p =0.03). The frequency of PAI-1 4G allele was higher in deep vein thrombosis and pulmonary thromboembolism patients than in the control population (p =0.002 and p =0.015). MTHFR C677T and ACE I/D SNPs were not different in both diseases compared to the controls.

Conclusion: It is likely that the MTHFR A1298C variant has an impact on the formation of pulmonary thromboembolism. The PAI-1 4G/5G polymorphism is significantly associated with the development of both deep vein thrombosis and pulmonary thromboembolism. No significant correlation was found between the MTHFR C677T and ACE I/D SNPs and these conditions.