Abstract

The mTOR (mammalian target of rapamycin) enzyme plays an important role in extracellular signal transduction, phosphorylates various protein metabolism enzymes, transcription and translation factors and in this way regulate metabolism in skeletal muscles [1]. mTOR is encoded by the mTOR (FRAP1) gene, which contains 8189 single nucleotide polymorphisms (SNP). Their genetic contribution to this protein activity is yet to be confirmed. We aimed to establish whether the SNPs (rs 2295080 and rs11121704) in the FRAP1 gene were associated with athlete status in different kind of sport.

During the course of the study a total of 251 highly qualified athletes of various sport backgrounds were enrolled. Athletes represented functional groups: endurance-oriented (N = 97); mixed sports (N = 47); power-oriented (N = 107). A total of 390 subjects not involved in sport activities were recruited into the sedentary group. DNA samples were extracted from the participants’ buccal epithelial cells. The real-time PCR by «7500 Fast Real-time PCR» was used to determine the T/G (rs 2295080) and T/T (rs11121704) mTOR gene polymorphisms. A study of special performance in athletes with different genotypes that specialised in weight-lifting was conducted.

The genotype frequencies were all within the Hardy-Weinberg equilibrium. There were no differences in genotype distribution of T/C (rs11121704) mTOR in the athlete and sedentary group. There was no strong evidence of the association of the T/C (rs11121704) mTOR with the athletes status, but the T-allele frequency was higher in endurance athletes, C-allele − in strength athletes. A higher C-allele frequency may lead to a positive influence in strength sports as it was previously shown that the C-allele can lead to an increased expression of this factor.

Analysis of T/G (rs 2295080) revealed that the frequency of G/G-genotype average is as follows: sedentary group −75%, endurance-oriented −15 5%, mixed sports – 85%, power-oriented – 56%. There is a reduction in the number of athletes who are carriers of G/G-genotype and allele among power-oriented athletes and an increase in the number of endurance-oriented athletes. We established the reduction of G-allele frequency in power-oriented athletes, and the increase of T-allele frequency in this group of carriers. Probable difference in the distribution of alleles in athletes who specialise in endurance sports and power-oriented athletes (p = 004) was found. Athletes, who are carrier of G-allele of T/G polymorphism of mTOR gene, show the tendency to decrease indicators of special performance compared to athletes with T/T genotype.

The association between T/G polymorphism of mTOR gene and athletes status was established. Established association can be connected with the fact that this polymorphism located in the promoter region of the gene and leads to changes in the level of mRNA. The research results are still controversial, require functional studies and should be investigated in relevant cohorts. Our results can be used to design better selection and training processes in order to allow athletes to achieve their full potential.