Candidate genes and single-nucleotide gene variants associated with muscle and tendon injuries in cyclic sports athletes

Abstract

Sports injuries prevention is one of the key issues of the training process and reducing the risk of developing anxiety and depressive disorders in professional athletes. One of peculiarities of sports injuries is the loss of the ability to train in view of the tendon-ligamentous apparatus integrity, joints, muscles or bones violation. In cyclic sports, the most common are injuries to the ankle joint, injuries to muscles and tendons, and sprains. Injuries to ligaments and tendons are the result of multifactorial problems, including the discrepancy between training effects and the genetically determined capabilities of the athlete's body. Sports injuries consequences are determined by complex interactions between the athlete's genotype and environmental factors, in particular training influences. (1) Background: to review scientific articles on the problem of research on candidate genes and single-nucleotide variants (SNVs) of genes associated with muscle, tendon, and ligament injuries in cyclic sports athletes. (2) Methods: a search of articles for the period from 2008 to 2020 was conducted in the databases e-LIBRARY, SCOPUS, Web of Science, Google Scholar, Clinical keys, PubMed using the keywords: personalized medicine, genetics, candidate genes, single-nucleotide variant, polymorphism, muscle, tendon, injury, athlete. (3) Results: Studies have shown that muscle and tendon injuries in cyclical sports athletes are associated with SNV rs1800012, rs1107946 of the COL1A1 gene, SNV rs12722 of the COL5A1 gene, SNV rs679620 of the MMR3 gene, SNV rs2289360 of the ELN gene, SNV rs143383 of the GDF5 gene. The most studied polymorphisms are rs1800012, rs1107946 of the COL1A1 gene, rs12722 of the COL5A1 gene, and rs143383 of the GDF5 gene. The variable results of associative genetic studies and genome-wide studies are most likely due to the racial and ethnic heterogeneity of the samples and differences in the study design. (4) Conclusions: Identification of genetic markers associated with injuries and diseases of the musculoskeletal system, ligamentous apparatus, and the ability of tissue to regenerate can help sports doctors and coaches develop personalized strategies to prevent or reduce muscles, joints, and ligaments diseases in athletes. The translation of these research results into the training and treatment process is important for improving cyclic sports athletes' performance, reducing their professional mala-daptation and anxiety and depressive disorders development risk.

Recurrent Neural Model to Analyze the Effect of Physical Training and Treatment in Relation to Sports Injuries

“…is method includes historical timestamp prediction mistakes into the current timestamp forecast, allowing the model to "learn" from previous forecasts. A regularization technique took into account the model's estimating errors on the input data and its label prediction errors [13]. As a result, an intelligent system such as Recurrent Neural Networks (RNNs) is required to efficiently analyze, predict, and recognize sports injuries.…”

“…It must enter a φ y (q t−1 y′ ) next nerve cell as new information and effect the subsequent data output. e equation (13) for such corresponding input nodes, its original input of both the hidden units, and also the outcome variable to it of destination node at time step t is represented in the following: equations ( 14) and (15).…”

Association of the ACTN3 Gene’s Single-Nucleotide Variant Rs1815739 (R577X) with Sports Qualification and Competitive Distance in Caucasian Athletes of the Southern Urals

“…That is, the inherent combination of muscle cells (fibers) of different types in all skeletal muscles is unique to him. Moreover, the number of muscle fibers and the number of motor units (motoneuron, axon and the totality of innervated muscle fibers) in a person are genetically determined and remain unchanged throughout his entire life [ 2 ].…”

Candidate Genes of Regulation of Skeletal Muscle Energy Metabolism in Athletes

“…As presented in Figure 1, the energy supply for muscle activity is provided by three energy systems: phosphogenic pathway, glycolytic pathway, and mitochondrial respiration (Figure 1). All energy systems for the synthesis of ATP molecules use a different substrate, involve a different number of reactions, resulting in having a different regeneration rate of ATP molecules and different metabolic products, which will determine the contribution of each system to the process of fatigue of the athlete's skeletal muscles and a movement speed decrease, which is important in cyclic sports [3][4][5].…”

“…Consequently, the identification of genetic markers, single nucleotide variants (SNVs), associated with the metabolic and contractile efficiency of skeletal muscles is a priority area of sports genetics. The identification of an athlete's predisposition to better tolerance of anaerobic or aerobic loads contributes to the rational choice of sports loads and the prevention of sports injuries [5].…”