Abstract
Background and objectives: The objective of this study is to determine the prevalence of factor V Leiden (G1691A), prothrombin (G20210A) and MTHFR (C677T) gene mutations in 201 Turkish patients who were referred to our clinic with venous thrombosis complications such as deep venous thrombosis, ischemic complications, thromboembolism and coronary artery disease. Methods: After isolation of genomic DNA from peripheral blood samples, polymerase chain reaction (PCR) and restriction fragment length polymorphism techniques were used for analysis. Results: Among patients with venous thrombosis complications, allelic frequencies were 0.33, 0.17 and 0.04 for MTHFR (C677T), factor V Leiden (G1691A) and prothrombin (G20210A) mutations respectively. Conclusion: Homozygosity for the MTHFR C677T mutation and/or presence of at least one copy of the A allele of the Factor V Leiden G1691A mutation was found to be associated with increased incidence of venous thrombosis complications in patients (p<0.01). The combined impact of these mutations on venous thrombosis should also be taken into consideration. In our study, prothrombin (G20210A) mutation was found not to be associated with venous thrombosis complications. We also found that the prevalence of factor V Leiden (G1691A), prothrombin (G20210A) and MTHFR (C677T) gene mutations in Turkish patients with venous thrombosis are comparable to results of other studies performed in Turkish and Caucasian populations. We did not observe any significant gender dependency for the factor V Leiden (G1691A), prothrombin (G20210A) and MTHFR (C677T) gene mutations in venous thrombosis complications.
Highlights
Thrombophilia is considered to be associated with both genetic and non-genetic factors
We compared the allelic frequencies of Methylenetetrahydrofolate Reductase (MTHFR), factor V Leiden and prothrombin gene mutations among 201 patients that were referred to our clinic with venous thrombosis complications such as deep venous thrombosis, ischemic complications, thromboembolism and coronary artery disease with a control group of 98 healthy individuals who had no venous thrombosis complications in their previous medical records
We have screened the most common mutations in blood coagulation factor genes (Factor V, Factor II) and Methylenetetrahydrofolate Reductase (MTHFR) gene in 201 Turkish patients who were referred to our clinic with venous thrombosis complications such as deep venous thrombosis, ischemic complications, thromboembolism and coronary artery disease and 98 healthy individuals with no venous thrombosis complications in their previous medical records
Summary
Thrombophilia is considered to be associated with both genetic and non-genetic factors. The association of mutations in these genes and others such as ACE and PON1 in the development of coronary artery disease (CAD) has been evaluated by other groups [1,2,3]. APC-resistance is a common inherited risk factor in venous thrombosis complications such as deep venous thrombosis, thromboembolism and coronary artery disease. The risk of venous thrombosis in patients with factor V Leiden (FVL) (G1691A) gene mutation further increases with the use of oral contraceptives [6]. The objective of this study is to determine the prevalence of factor V Leiden (G1691A), prothrombin (G20210A) and MTHFR (C677T) gene mutations in 201 Turkish patients who were referred to our clinic with venous thrombosis complications such as deep venous thrombosis, ischemic complications, thromboembolism and coronary artery disease. Methods: After isolation of genomic DNA from peripheral blood samples, polymerase chain reaction (PCR) and restriction fragment length polymorphism techniques were used for analysis
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