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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 theMTHFRgene 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 theMTHFRgene 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. [ABSTRACT FROM AUTHOR]

Background: The ADRB1 gene encodes the β1-adrenergic receptor and is thought to influence exercise capacity because of its contribution to the regulation of the cardiovascular system. The aim of the study was to determine the distribution of the ADRB1 genotypes Ser49Gly and Arg389Gly and identify the haplotypes within a group of Polish athletes to investigate the possible association between genetic polymorphisms in ADRB1 and athletic performance. Methodology: 223 Polish athletes and 354 volunteers were recruited for this study. All samples were genotyped using an allelic discrimination assay. Results: The frequencies of the 49Gly allele and the 49Gly:Arg389 haplotype were significantly higher in the subgroup of endurance athletes than in the controls (11% vs. 6.4%, P=0.026; 11% vs. 6.3%, P=0.048 for 49Gly allele and 49Gly:Arg389 haplotype, respectively). The odds ratio of having the 49Gly allele vs. Ser49/Ser49 genotype for endurance athletes was 2.00 (95% CI: 1.16-3.47; P=0.018). In the Polish athletes, the odds ratio of the ADRB1 49Gly:Arg389 haplotype for endurance athletes subgroup was 1.82 (95% confidence interval 1.10-3.00; P=0.026). Conclusions: Ser49Gly, but not Arg389Gly, marker of the ADRB1 gene and one haplotype combination of both polymorphisms are associated with endurance athlete status. The 49Gly variant and the 49Gly:Arg389 haplotype have a beneficial effect on sports proficiency. [ABSTRACT FROM AUTHOR]