Genetic risk factors for musculoskeletal injuries and disorders in athletes of the national teams of the Russian Federation

BACKGROUND: A high incidence of musculoskeletal injuries and disorders is a major challenge in elite sports. Although the contribution of genetic factors to individual risk is well recognized, the spectrum and frequency of associated genetic variants in a key population—athletes representing national teams of the Russian Federation—remain insufficiently studied, which limits the development of personalized preventive approaches. This work aimed to fill this knowledge gap.

AIM: The work aimed to determine the frequency and distribution of gene variants associated with the risk of musculoskeletal injuries and disorders among athletes of the Russian national teams.

METHODS: A cross-sectional retrospective study was conducted in athletes of national teams of the Russian Federation aged 18–40 years who provided written informed consent and underwent comprehensive medical examination (CME) in accordance with established procedures. The exclusion criterion was the absence of signed informed consent or incomplete CME data. Study groups were formed based on CME findings: the case group included athletes with a history of at least one musculoskeletal injury or disorder, whereas the control group comprised athletes without any documented musculoskeletal condition. The study was performed at the National Center for Sports Medicine (NCSM) and the Center of Sports Preparation (CSP), both under the Federal Medical-Biological Agency of Russia. Participants were enrolled, and retrospective data were collected from electronic CME databases between 2021 and 2024.

RESULTS: Among 152 athletes, 94 (61.8%) had a history of musculoskeletal injuries or disorders. Several genetic associations with outcome were identified for a number of variants. The highest odds ratios (ORs) were observed for the A allele of the IL18RAP gene (rs1420100, OR 31.81; p = 0.003) and the C allele of the FGF10 gene (rs1448037, OR 57.16; p = 0.003). Protective effects were shown for the G allele of the MIR608 gene (rs4919510, OR 0.06; p = 0.006) and the A allele of the MMP3 gene (rs650108, OR 0.10; p = 0.010). Additional significant associations were identified for variants in GDF5 (rs143383, OR 20.36; p = 0.002), VEGFA (rs1570360, OR 28.31; p = 0.003), and COL3A1 (rs1800255, OR 13.22; p = 0.007).

CONCLUSION: There were significant differences in the distribution of specific genetic variants between athletes with or without musculoskeletal injuries or disorders. The findings are consistent with the expected biological effects of these genes. The findings can be integrated into the medical and biological support system for athletes.