engleski

MTHFR Polymorphism in Patients with Cerebrovascular Insult and Deep Venous Thrombosis

Hyperhomocysteinemia is an independent risk factor for vascular disease, in which besides nutritional, genetic factors are also involved. The polymorphisms of methylenetetrahyfrofolate reductase (MTHFR) gene encoding for the enzyme, that controls homocysteine metabolism, predisposed to hyperchomocysteinemia, suggesting that MTHFR TT genotype is associated with an increased risk of vascular disease. The aim of the study was to evaluate the MTHFR polymorphism in 56 patients with stroke (ST) and 47 patients with deep venous thrombosis (DVT), and to compare it with control group (n=111). Polymorphic MTHFR alleles were detected by DNA isolated from EDTA blood by PCR-RFLP and RE Hinf I (G-AnTC). Quality controls containing known genotypes were included in each run. The results showed higher MTHFR T allele frequencies in either patient group (34.0% and 29.8% in ST and DVT patients, respectively) then in controls (24.8%), however, the difference was not significant. The frequency of MTHFR TT genotype distribution showed a significant difference between the control and ST group (p=0.004), and DVT group (p=0.001). The frequency of homozygous T allele genotype in ST was 12.5%, in DVT 12.8%, and in control group 0.9%. The odds ratio for ST and DVT patients was 17.571% (CI, 3.553-86.897) and 16.098 (3.095-83.727), respectively, revealing a significant risk for persons with homozygous TT genotype. These preliminary results suggest the potential association between the MTHFR gene polymorphism and development of peripheral vascular disease. In the future, this ongoing study is anticipated to include a larger group of subjects, hopefully leading to more decisive conclusions.

vascular diseases ; MTHFR polymorphism

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