THE ASSOCIATION OF HOMOCYSTEINE AND METHYLENE TETRAHYDROFOLATE REDUCTASE (MTHFR C677T) GENE POLYMORPHISM WITH DEEP VEIN THROMBOSIS IN THE POPULATION OF NORTH MACEDONIA

  • Julijana Marko Brezovska-Kavrakova Institute of Medical and Experimental Biochemistry, Faculty of Medicine, University “Ss Cyril and Methodius” Skopje, Republic of North Macedonia
  • Katerina Tosheska-Trajkovska Institute of Medical and Experimental Biochemistry, Faculty of Medicine, University “Ss Cyril and Methodius” Skopje, Republic of North Macedonia
  • Irena Kostovska Institute of Medical and Experimental Biochemistry, Faculty of Medicine, University “Ss Cyril and Methodius” Skopje, Republic of North Macedonia
  • Svetlana Cekovska Institute of Medical and Experimental Biochemistry, Faculty of Medicine, University “Ss Cyril and Methodius” Skopje, Republic of North Macedonia
  • Sasho Panov Laboratory for Molecular Biology and Human Genetics, Faculty of Natural Sciences,University “Ss Cyril and Methodius” Skopje, Republic of North Macedonia
  • Lidija Petkovska Department of Internal Medicine, Faculty of Medicine, University" Ss Cyril and Methodius", Skopje, Republic of North Macedonia
  • Dejan Spasevski Department of Internal Medicine, Faculty of Medicine, University “Ss Cyril and Methodius” Skopje, Republic of North Macedonia

Abstract

 The implications of the methylene tetrahydrofolate reductase (MTHFR) gene and the level of total homocysteine (tHcy) in the pathogenesis of deep vein thrombosis (DVT) have been extensively studied in various ethnic groups. Our aim was to discover the association of MTHFR (C677T) polymorphism and homocysteine level in healthy subjects and in patients with DVT in the Republic of North Macedonia. The study group consisted of 123 healthy subjects, control group, and 93 consecutive ultrasonography and/or venography confirmed DVT patients. The concentration of plasma tHcy was determined by cyclical enzymatic method and the MTHFR gene polymorphism was analyzed by the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).The results obtained for mean plasma tHcy in the control group were 9.7±3.65 μmol/L, while tHcy level was significantly higher in patients with deep vein thrombosis - 15.19±3.63 μmol/L (р<0.001). The highest frequency of mutation of MTFHR gene C677T was found for genotype CT, followed by wild genotype CC and the lowest frequency of genotype TT was found in control and DVT groups.The results have shown that plasma tHcy level is a contributing factor for development of this disease, DVT. Our findings have shown that MTHFR C677T polymorphisms were not associated with deep vein thrombosis in the selected population.


Key words:total homocysteine, deep vein thrombosis, methylenttetrahydrofolate reductase

Author Biographies

Lidija Petkovska, Department of Internal Medicine, Faculty of Medicine, University" Ss Cyril and Methodius", Skopje, Republic of North Macedonia

 

 

Dejan Spasevski, Department of Internal Medicine, Faculty of Medicine, University “Ss Cyril and Methodius” Skopje, Republic of North Macedonia

 

 

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Published
2020-07-03
How to Cite
BREZOVSKA-KAVRAKOVA, Julijana Marko et al. THE ASSOCIATION OF HOMOCYSTEINE AND METHYLENE TETRAHYDROFOLATE REDUCTASE (MTHFR C677T) GENE POLYMORPHISM WITH DEEP VEIN THROMBOSIS IN THE POPULATION OF NORTH MACEDONIA. Journal of Morphological Sciences, [S.l.], v. 3, n. 1, p. 24-32, july 2020. ISSN 2545-4706. Available at: <https://jms.mk/jms/article/view/95>. Date accessed: 21 jan. 2022.
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Articles