Abstract
Myostatin up-regulation activates transcription factors that inhibit muscle growth. It is possible that common genetic variants on these genes are capable of modulating the activity of myostatin. These could partly explain the individual variation in response to training. In this regard, not only the myostatin gene has been evaluated, but other key genes of myostatin signaling are being investigated. A fine exploration of a previously identified linkage peak for knee strength on chr12q12-14 has shown strong associations between ACVR1B genotypes and knee muscle strength. In caucasians, rs2854464 A/A individuals were approximately 2% stronger than G-allele carriers. Thus far, we have no information regarding this polymorphism in Brazilian athletic populations. PURPOSE: To compare the frequency of the polymorphism rs2854464 between three groups of Brazilians: endurance athletes, strength/power athletes and non-athletes adults. METHODS: A total of 379 Brazilians (men and women) were genotyped (101 endurance elite athletes; 166 strength/power elite athletes and 112 non-athletes). Genotyping was conducted using a pre-designed specific TaqMan® SNP Genotyping Assay. X2 test and Fisher exact test were used to evaluate differences between groups of athletes and non-athletes in the genotype distribution. RESULTS: The Minor Allele Frequency (MAF) presented in this study (G=0.334) was very similar to the overall value presented by the 1000 genomes (G=0.3684). Meaning that our sample was similar to other samples in different populations. The percentages of each genotype found for each group were: Non-athletes, G/G= 13.39 %, G/A= 40.18 %, A/A = 46.43 %; Endurance athletes, G/G= 12.87 %, G/A= 46.53 %, A/A = 40.59 %; Strength/Power athletes, G/G= 15.06 %, G/A= 48.19 %, A/A = 36.75 %. The distribution of the genotypes was not different between groups. CONCLUSION: The frequencies of genotypes for the polymorphism rs2854464 of ACVR1B gene, a transmembrane receptor involved in the signaling pathway of myostatin were not different among a cohort of athletes and non-athletes. Although only top athletes were included in this analysis, we could not confirm the association between this polymorphism and competitive success. João Paulo L. F. Guilherme is supported by the Fundação de Amparo a Pesquisa do Estado de São Paulo (FAPESP 2012/22516-6).
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