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Factor V Leiden (G1691A), Factor V R2 (A4070G), and Prothrombin (G20210A) Genetic Polymorphisms in Macedonian Patients with Occlusive Artery Disease and Deep Vein Thrombosis

, Sashko Kedev, Olivija Efinska-Mladenovska

Abstract: AIM: The aim was to analyze association of Factor V Leiden (G1691A), Factor V R2 (A4070G) , and Prothrombin (G20210A) Genetic Polymorphism in Macedonian Patients with Occlusive Artery Disease (OAD) and Deep Vein Thrombosis (DVT). METHODS: Investigated groups consists of 82 healthy, 76 patients with OAD, and 67 patients with DVT. Blood samples were collected after written consent, and DNA was isolated from peripheral blood leukocytes. Identification of Factor V Leiden (G1691A), Factor V R2 (A4070G) , and Prothrombin (G20210A) Genetic Polymorphism was done with CVD StripAssay (ViennaLab, Labordiagnostica GmbH, Austria). The population genetics analysis package, PyPop, was used for analysis of the data. Pearson's P -values, crude Odds Ratio and Wald’s 95% CI were calculated. RESULTS: The frequency of G allele for Factor V Leiden was 0.976 for healthy participants, 0.954 for OAD, and 0.948 for DVT. The frequency of A allele for Factor R2 is highest in healthy participants (0.951), smaller in patients with DVT (0.918), and smallest in the patients with OAD (0.908). G allele frequency for prothrombin was 0.976 in healthy participants, 0.980 in patients with OAD, and 0.978 in patients with DVT. Test of neutrality (Fnd) showed positive value, but was not significantly different from 0. Factor V Leiden (G1691A), Factor R2 (A4070G) , and Prothrombin (G20210A) genotypes in healthy participants and patients with OAD and DVT were in Hardy Weinberg proportions. Any association of Factor V Leiden (G1691A), Factor R2 (A4070G) , and Prothrombin (G20210A) genetic polymorphism with OAD, and DVT in Macedonians was not found. CONCLUSION: We conclude that significant association of Factor V Leiden (G1691A), Factor R2 (A4070G), and Prothrombin (G20210A) genetic polymorphism with occlusive artery disease or deep venous thrombosis in Macedonians was not found.
Keywords: polymorphism / DVT / package / prothrombin / Oad / Leiden / G1691a / G20210a / A4070g / Factor R2

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