Methionine synthase reductase (MTRR) A66G polymorphism is not related to plasma homocysteine concentration and the risk for vascular disease.

Epidemiological evidence has revealed that hyperhomocysteinemia increases the risk for vascular disease. Methionine Synthase Reductase (MTRR) is one of several key enzymes in the homocysteine metabolic pathway and its mutant forms have been implicated in abnormal homocysteine accumulation. In this study, we determined total plasma homocysteine levels and MTRR A66G polymorphism in 114 patients with vascular disease: 58 patients with deep-vein thrombosis, 56 patients with arterial thrombosis, and 95 healthy subjects from the Sicilian population. Our data confirmed that, as already reported, moderately elevated t-Hcy levels are correlated with an increased risk of vascular disease. In our study, the levels of t-Hcy found in both deep-vein thrombosis (13.7+/-3.2 micromol/L) and arterial thrombosis (14.3+/-4.3 micromol/L) patient groups were higher than levels detected in normal subjects (8.7+/-2.7 micromol/L). We concluded that the MTRR A66G polymorphism was not associated with the t-Hcy plasma concentration because the same genotype frequency distribution was detected in both patients and healthy individuals.