Abstract
In this study, we performed an analysis of the impact of performance enhancing polymorphisms (PEPs) on gymnastic aptitude while considering epistatic effects. Seven PEPs (rs1815739, rs8192678, rs4253778, rs6265, rs5443, rs1076560, rs362584) were considered in a case (gymnasts)-control (sedentary individuals) setting. The study sample comprised of two athletes' sets: 27 elite (aged 24.8 ± 2.1 years) and 46 sub-elite (aged 19.7 ± 2.4 years) sportsmen as well as a control group of 245 sedentary individuals (aged 22.5 ± 2.1 years). The DNA was derived from saliva and PEP alleles were determined by PCR, RT-PCR. Following Multifactor Dimensionality Reduction, logistic regression models were built. The synergistic effect for rs1815739 x rs362584 reached 5.43%. The rs1815739 x rs362584 epistatic regression model exhibited a good fit to the data (Chi-squared = 33.758, p ≈ 0) achieving a significant improvement in sportsmen identification over naïve guessing. The area under the receiver operating characteristic curve was 0.715 (Z-score = 38.917, p ≈ 0). In contrast, the additive ACTN3 -SNAP-25 logistic regression model has been verified as non-significant. We demonstrate that a gene involved in the differentiation of muscle architecture-ACTN3 and a gene, which plays an important role in the nervous system-SNAP-25 interact. From the perspective originally established by the Berlin Academy of Science in 1751, the matter of communication between the brain and muscles via nerves adopts molecular manifestations. Further in-vitro investigations are required to explain the molecular details of the rs1815739 -rs362584 interaction.
Highlights
By 1798, Luigi Galvani discovered two phenomena: muscle stimulation by extrinsic electricity and a genuine potential difference between the nerve and the muscle
The minor allele frequency (MAF) for every candidate single nucleotide polymorphisms (SNPs) was no less than 16.5%, which was the lowest value for the case of rs4253788 (PPARα) – in the control group (S2 Supplementary Material, Table S2)
Our analysis of seven PEPs (ACTN3, PPARGC1A, PPARα, BDNF-AS, DRD2, GNB3, SNAP-2), allows us to state with 93% confidence that the rs819267 provides as much as 0.0065 bit of information on sports gymnastics
Summary
By 1798, Luigi Galvani discovered two phenomena: muscle stimulation by extrinsic electricity and a genuine potential difference between the nerve and the muscle. These findings lead his successors to investigate the details of the electrical influence on nerve function in the context of muscle movement. The scientific community has reached the molecular level of understanding the mechanisms involved and have already honed in on the genomic loci affecting athleticism. To move beyond simple SNP associations, genetic epistasis modeling may enhance the understanding of sports performance. Authors investigating genetic interactions typically rely only on genotype frequency odds ratios [1,2,3] or perform Genome-Wide Interaction Analyses (GWIA) employing tests visualized by pseudo-
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