Influence of MTHFR polymorphisms on cardiovascular risk markers in elite athletes

OBJECTIVES: To investigate the distribution of MTHFR C677T and A1298C as well as PON1 Q192R gene polymorphisms, known to be involved in hyperhomocysteinemia-related cardiovascular risk, in elite athletes. DESIGN AND METHODS: Genetic background at MTHFR and PON1 loci and plasma levels of homocysteine, folate, vitamin B12 and advanced oxidation protein product (AOPP) levels were assessed in thirty-seven 400m male hurdlers and thirty-four sedentary subjects. RESULTS: Homocysteine plasma levels and AOPPs were significantly higher in hurdlers bearing the TT677/AA1298 diplotype than in both hurdlers and sedentary subjects with other diplotypes. A positive dependence between either homocysteine or AOPP plasma levels and MTHFR, but not PON1 genotype, was observed in hurdlers. CONCLUSIONS: Elite hurdlers, having an unfavorable MTHFR genotype are exposed to increased cardiovascular risk, dependent on alterations of homocysteine and AOPP plasma levels.