Association of theMTHFR1298A>C (rs1801131) polymorphism with speed and strength sports in Russian and Polish athletes

Abstract

It has been suggested that DNA hypomethylation because of poorer effectiveness of the 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme induces muscular growth. We hypothesised that the common, functional 1298A>C polymorphism in the MTHFR gene is associated with athletic status. To test this hypothesis, we investigated the distribution of the 1298A>C variant in Polish (n = 302) and Russian (n = 842) athletes divided into four groups: endurance, strength-endurance, sprint-strength and strength-endurance, as well as in 1540 control participants. We found different genotypes (the AC heterozygote advantage) and allele distributions among sprint-strength athletes and strength athletes than the groups of sedentary controls for each nationality. In the combined study, the allelic frequencies for the 1298C variant were 35.6% in sprint-strength athletes (OR 1.18 [1.02-1.36], P = 0.024 vs. controls) and 38.6% in strength athletes (OR 1.34 [1.10-1.64], P = 0.003 vs. controls). The results of the initial and repetition studies as well as the combined analysis suggest that the functional 1298A>C polymorphism in the MTHFR gene is associated with athletic status. The presence of the C allele seems to be beneficial in sprint-strength and strength athletes. It needs to be established whether and to what extent this effect is mediated by alteration in DNA methylation status.

AGTR2 gene polymorphism is associated with muscle fibre composition, athletic status and aerobic performance

“…Given that the AGTR2 gene is located on the X chromosome (men can have only one of either the С or the A allele, while women may have zero, one or two copies of either allele), all analyses were done separately for men and women. The frequencies of the AGTR2 genotypes and alleles did not differ between Russian and Polish control subjects or athletes (data not shown), supporting our previous observations that Russian and Polish populations have similarities in their genetic profile (Maciejewska et al 2012;Sawczuk et al 2013;Zarebska et al 2014). Therefore, for the main analyses we used the combined data (i.e.…”

Current Progress in Sports Genomics

“…The frequencies of MTHFR rs1801131 C (37.0% vs. 19.8%), MTR rs1805087 G (20.7% vs. 10.8%), and MTRR rs1801394 G (42.7% vs. 17.0%) alleles (probably associated with a reduced DNA methylating capacity) were significantly higher in athletes compared with controls [215]. Recently, Zarebska et al [216] have replicated the results of association between the MTHFR rs1801131 C allele and power/strength athlete status in a study of 846 power/strength athletes from Poland and Russia. Taken together, these data indicate that elite athletes have a genetic predisposition to DNA hypomethylation and synthesis (factors leading to myogenic differentiation stimulation, muscle mass increase, and induction of genes involved in energy metabolism).…”

Exercise training and DNA methylation in humans

“…A second case–control study in a larger sample of 1144 athletes and 1540 controls supported the previous findings on the MTHFR 1298A>C polymorphism (Zarebska et al . ). AC heterozygotes were over‐represented in sprint–strength and sprint athletes compared with controls, suggesting that the C allele is beneficial to sprint/power performance.…”