Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey

Authors : Muhammed Ertugrul EGİN, Zülfinaz Betül ÇELİK, Ümit KERVAN, Mehmet KARAHAN, Abdulgani TATAR

Pages : 268-273

Doi:10.54005/geneltip.1196430

View : 81 | Download : 121

Publication Date : 2023-06-30

Article Type : Research Paper

Abstract :Objectives: Polymorphisms in the thrombophilia genes such as Factor V Leiden insert ignore into journalissuearticles values(FVL);, Prothrombin G20210A and methylenetetrahydrofolate reductase insert ignore into journalissuearticles values(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 insert ignore into journalissuearticles values(PAI);-1, β-Fibrinogen, Factor XIIIA insert ignore into journalissuearticles values(V34L); and Glycoprotein IIIA insert ignore into journalissuearticles values(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 insert ignore into journalissuearticles values(V34L); 23,3% and 2,4% and for Glycoprotein IIIA insert ignore into journalissuearticles values(L33P); 17,7% and 1,5% respectively. Conclusions: Factor V Leiden and Factor II insert ignore into journalissuearticles values(Prothrombin); G20210A mutations were found at a higher rate in our region compared to other regions in the west.
Keywords : trombofili, venöz tromboembolizm, gen mutasyonu