METHYLENETETRAHYDROFOLATE REDUCTASE GENE POLYMORPHISMS
IN CARDIOMETABOLIC DISEASES
Cristina Hotoleanu, Mihai Porojan, and Mihai Lucian Rusu
Second Department of Medicine, University of Medicine and Pharmacy Iuliu Hatieganu, Cluj-Napoca, Romania
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.
Biomed Rev 2008; 19: 49-52.
Key words: homocysteinemia, methylenetetrahydrofolate reductase polymorphisms, cardiometabolic diseases
Received 20 November, 2008, accepted 15 December 2008.
Correspondence and reprint request to Dr Cristina Hotoleanu, 9 Iancu Hunedoara str., Cluj-Napoca, Romania.
Tel.: 40 0744 392 203, Fax: 40 264 580 499,