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Year : 2019  |  Volume : 44  |  Issue : 1  |  Page : 21-27

Thrombophilic gene polymorphisms are associated with deep venous thrombosis in a cohort of Egyptian patients

1 Department of Clinical and Chemical Pathology, Faculty of Medicine, Beni Suef University, Beni Suef, Egypt
2 Internal Medicine Department, Faculty of Medicine, Cairo University, Giza, Egypt
3 Department of Critical Care, Faculty of Medicine, Beni Suef University, Beni Suef, Egypt

Correspondence Address:
Dina H El-Dahshan
Clinical and Chemical Pathology Department, Faculty of Medicine, Beni Suef University, Beni Suef, 19773
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ejh.ejh_3_19

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Background There is several evidence suggesting, that inherited thrombophilia increases the susceptibility to venous thromboembolism (VTE). Aim is to detect prothrombotic genes polymorphisms possible association with the risk of occurrence of venous thrombosis. Methods A group of eleven gene polymorphisms related to the risk of thromboembolic events were studied; including Factor V Leiden(FVL) 1691G>A, Methylene tetrahydrofolate reductase gene (MTHFR) C677>T and others. Genotyping was done using PCR, and identification of corresponding bands using the StripAssay in 493 patients with clinical symptoms of deep venous thrombosis (DVT). Five hundred age and sex matched healthy individuals were included as a control group. Results Genotyping of DVT patients showed significantly higher prevalence of FVL 1691G>A, MTHFR C677>T, MTHFR 1298A>C, Prothrombin 20210G>A, PAI 4G, FVIII V34L, B Fibrinogen 455G>A, HPA-1, ACE and APO E e4 gene polymorphisms (p<0.001). Seven and 11 fold increased susceptibility to DVT among patients with MTHFR C and MTHFR A mutations (OR 7.318& 11.23) respectively. Moreover a strong association was detected between DVT and mutations in genes: PAI 4G (OR 46.987), B Fibrinogen (OR 3.331), Ace (OR 187.663) and Apo E (OR 386.361). Conclusion Individuals carrying thrombophilic genes polymorphisms are at a greater risk for venous thrombosis.

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