Homocysteinemia and Methylentetrahydrofolate Reductase Gene Mutation as a Risk Factor for Blood Vessel Disease

Dzhekova-Stojkova, Sloboda; Krstevska, Marija; Gordana Bosilkova; Snezhana Trajkovska; Stojanka Kostovska; Mirko Spiroski; Vladimir Borozanov; Aleksandar Petlichkovski; Tatjana Darkovska
September 2008
Macedonian Journal of Medical Sciences;9/15/2008, Vol. 1 Issue 1, p68
Academic Journal
The aim of the project was to investigate homocysteinemia and Methylentetrahydrofolate reductase (MTHFR) gene (C677T) mutation with vascular diseases. The investigation comprised a total number of 378 subjects divided into two main groups: 194 healthy individuals and 184 patients: 91 with arterial occlusive disease (AOD) and 93 with thrombosis of deep vein (TDV). Concentration of total homocysteine (tHcy) in plasma was determined using the modified immunoenzyme method. Mutation of MTHFR C677T was examined with polymerase chain reaction with CVD StripAssay (ViennaLab Labordiagnostika GmbH) as a segment of 12 mutations of the cardiovascular system. Concentration of tHcy in patients with AOD was 16.3 ± 8.4 μmol/L in men, 14.1 ± 3.3 μmol/L in women and it was statistically significantly increased as compared to healthy subjects from the same gender (p<0.001). Concentration of tHcy in men with TDV was 14.0 ± 3.5 μmol/L, 13.4 ± 3.0 μmol/L in women and it was significantly increased in comparison to healthy subjects (p<0.001). Concentration of homocysteine in plasma of healthy subjects with different genotype of MTHFR C677T showed significantly higher values for TT when compared to CC genotype as well as to CT genotype. Comparison between healthy and sick individuals both separately, AOD and TDV, or as one entity, showed significantly higher values for the genotypes CC and CT, but not for the TT genotype. There was no correlation of MTHFR C677T gene mutations with AOD and TDV.


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