Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey
Öz
Objectives: Polymorphisms in the thrombophilia genes such as Factor V Leiden (FVL), Prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) cause genetic predisposition to thrombophilia. The regional incidence of these polymorphisms varies. The aim of our study is to evaluate the regional frequency of the most common single nucleotide polymorphisms of these thrombophilia genes.
Methods: In this retrospective study, patients diagnosed with VTE in our center were included in the study. The presence of FVL, Prothrombin G20210A, MTHFR C677T, MTHFR A1298C, plasminogen activator inhibitor (PAI)-1, β-Fibrinogen, Factor XIIIA (V34L) and Glycoprotein IIIA (L33P) were investigated in blood samples obtained from the patients, and the association of genotype disorders was also evaluated.
Results: Eight genotypes were analyzed in 2000 patients whose thrombophilia panel was studied in our clinic. The frequency of heterozygosity for the Factor II G20210A polymorphisms was 4,6%, the homozygosity for the Factor V Leiden polymorphism was 0,4%, for MTHFR C677T 7,6% , for MTHFR A1298C 48,1% and 15,7% , for PAI-1 38,8% and 13% , for β-Fibrinogen 30,3% and 4%, for Factor XIIIA (V34L) 23,3% and 2,4% and for Glycoprotein IIIA (L33P) 17,7% and 1,5% respectively.
Conclusions: Factor V Leiden and Factor II (Prothrombin) G20210A mutations were found at a higher rate in our region compared to other regions in the west.
Anahtar Kelimeler
thrombophilia, venous thromboembolism, gene mutation
Destekleyen Kurum
none
Proje Numarası
none
Teşekkür
none
Kaynakça
- 1. Atahan E, Çağlar E, Şarkış C, Uğurlu S. Venöz tromboemboli ve kalıtsal trombofili. Turkish J Thorac Cardiovasc Surg. 2009;17(4):302-11.
- 2. Williamson D, Brown K, Luddington R, Baglin C, Baglin T. Factor V Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C. Blood. 1998;91(4):1140-4.
- 3. De Stefano V, Finazzi G, Mannucci PM. Inherited thrombophilia: pathogenesis, clinical syndromes, and management. Blood. 1996;87(9):3531-44.
- 4. Zivelin A, Griffin JH, Xu X, Pabinger I, Samama M, Conard J, et al. A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood. 1997;89(2):397-402.
- 5. Kabukcu S, Keskin N, Keskin A, Atalay E. The frequency of factor V Leiden and concomitance of factor V Leiden with prothrombin G20210A mutation and methylene tetrahydrofolate reductase C677T gene mutation in healthy population of Denizli, Aegean region of Turkey. Clin Appl Thromb Hemost. 2007;13(2):166-71.
- 6. Mazoyer E, Ripoll L, Gueguen R, Tiret L, Collet JP, dit Sollier CB, et al. Prevalence of factor V Leiden and prothrombin G20210A mutation in a large French population selected for nonthrombotic history: geographical and age distribution. Blood Coagul Fibrinolysis. 2009;20(7):503-10.
- 7. Fujimura H, Kambayashi J-i, Monden M, Kato H, Miyata T. Coagulation factor V Leiden mutation may have a racial background. Thrombosis and haemostasis. 1995;74(11):1381-2.
- 8. Herrmann FH, Koesling M, Schroder W, Altman R, Jimenez Bonilla R, Lopaciuk S, et al. Prevalence of factor V Leiden mutation in various populations. Genet Epidemiol. 1997;14(4):403-11.
- 9. Akar N, Akar E, Dalgin G, Sozuoz A, Omurlu K, Cin S. Frequency of Factor V (1691 G --> A) mutation in Turkish population. Thromb Haemost. 1997;78(6):1527-8.
- 10. Ozbek U, Tangun Y. Frequency of factor V Leiden in Turkey. Int J Hematol. 1996;64(3-4):291-2.