Background: Venous thromboembolism (VTE) is a common and potentially lethal disorder that manifests mainly as deep vein thrombosis (DVT) of the extremities or pulmonary embolism (PE) and occurs as a consequence of genetic and environmental risk factors. Aim of the study :To evaluate the prevalence and the association of the genetic markers Factor V Leiden (G1691A), Prothrombin gene (PT G20210) and methylene tetra hydro folate reductase (MTHFR C677T) polymorphisms in high-risk patients with venous thromboembolism in Benha University Hospital. Patients and Methods: The study consisted of 20 patients of both sexes divided into three groups lower limb DVT group, isolated PE group and DVT complicated by PE group .A venous blood sample collected from patients was used to detect Factor V Leiden (G1691A), Prothrombin gene (G20210A) and methylene tetra hydro folate reductase (MTHFR C677T) polymorphisms by real time polymerase chain reaction (PCR) genotyping. Results: We found that the highest genotyping frequency was FVL G1691A polymorphism (40.0%), the lowest frequency was F2 G20210A polymorphism (10.0) and (25%) of included patients had MTHFRC677T polymorphism. Genotyping frequency of these polymorphisms had no statistically significant difference between VTE subgroups. Conclusion: The present study performed a review of genetic variants associated with venous thromboembolism for understanding the underlying etiology and our results give a strategy of diagnostic evaluations for the individuals at high risk of venous thromboembolism. |
