Association of the MTHFR 1298A > C ( rs1801131) polymorphism with speed and strength sports in Russian and Polish athletes

作者：Zarebska Aleksandra; Ahmetov Ildus I; Sawczyn Stanislaw; Weiner Alexandra S; Kaczmarczyk Mariusz^*; Ficek Krzysztof; Maciejewska Karlowska Agnieszka; Sawczuk Marek; Leonska Duniec Agata; Klocek Tomasz; Voronina Elena N; Boyarskikh Uljana A; Filipenko Maksim L; Cieszczyk Pawel

来源：Journal of Sports Sciences, 2014, 32(4): 375-382.

DOI：10.1080/02640414.2013.825731

• DNA methylation
• athletic ability
• MTHFR
• single nucleotide polymorphism

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.

• 出版日期2014-2-25