Although there is growing evidence that C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene could be considered a risk factor for cardiometabolic diseases associated with elevated levels of homocysteine, the clinical impact and efficiency of therapy remain a matter of debate. The role of A1298C polymorphism of MTHFR in these diseases is still not clearly defined. Most of the studies have shown the correlations between homozygosity for the T677 allele of the MTHFR gene and homocysteine-related cardiometabolic diseases including the metabolic syndrome, diabetes mellitus, ischemic cardiopathy, stroke, and venous thromboembolism. The proposed pathological mechanism of hyperhomocysteinemia involves prothrombotic effects and endothelial dysfunction. Therapy with vitamins B may decrease the homocysteine level in cases with C677T polymorphism whereas the reducing effect on cardiovascular events is not significant.
Biomedical Reviews 2008; 19: 49-52.
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