Influence of Mthfr Polymorphisms on Cardiovascular Risk Markers in Elite Athletes


MTHFR and PON1 polymorphisms are involved in the modulation of plasma levels of homocysteine and oxidated proteins, respectively.

The highest Hcy plasma levels, together with the lowest folates, were observed in MTHFR TT677/AA1298 subjects in both groups.

Growing AOPP plasma concentrations were observed among hurdlers when comparing either MTHFR CT677/AC1298 compound heterozygous or TT677/AA1298 individuals with subjects carrying the other diplotypes.

AOPP were positively correlated with Hcy, and both markers were positively dependent on MTHFR genotype in hurdlers.



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 products (AOPP) levels were assessed in thirty-seven 400 m men hurdlers and thirty-four sedentary subjects.


Homocysteine plasma levels and AOPP 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.


Elite hurdlers, having an unfavourable MTHFR genotype are exposed to increased cardiovascular risk, dependent on alterations of homocysteine and AOPP plasma levels.


  • elite athletes;
  • cardiovascular risk;
  • homocysteine;
  • advanced oxidation protein products;
  • gene polymorphisms
Corresponding author.

These two authors equally contributed to this work.

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Autor / Fonte:Monica Currò, Debora Di Mauro, Daniele Bruschetta, Federico D´Amico, Mercurio Vecchio, Fabio Trimarchi, Riccardo Ientile, Daniela Caccamo Clinical Biochemistry 2015 August 14