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Genetic Variations in Susceptibility to Traumatic Muscle Injuries and Muscle Pain among Brazilian High-Performance
Inês Soares Marques1,2, Valéria Tavares1,3,4, Beatriz Vieira Neto1,5
1Molecular Oncology and Viral Pathology Group, Research Center of IPO Porto (CI-IPOP)/Pathology and Laboratory Medicine Dep. Clinical Pathology SV/RISE@CI-IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Centre (Porto.CCC), 4200-072 Porto, Portugal.
Certain gene variations, specifically ACTN3 and FAAH SNPs, are linked to post-exercise muscle pain in athletes. These genetic factors, alongside environmental influences, may impact athletic performance and recovery. Further research is needed for prophylactic interventions.
Area of Science:
- Sports Medicine
- Genetics
- Exercise Physiology
Background:
- Traumatic muscle injuries (TMIs) and muscle pain (MP) significantly hinder athletic performance and quality of life.
- The pathophysiology of TMIs and MP is complex, involving genetic and environmental interactions, yet data remain limited.
- Understanding genetic predispositions can aid in developing targeted interventions for athletes.
Purpose of the Study:
- To investigate the association between single-nucleotide polymorphisms (SNPs) and TMI and MP in Brazilian high-performance athletes.
- To identify specific genetic markers that predict muscle pain after exercise.
- To assess the influence of environmental factors on TMI and MP.
Main Methods:
- A cohort of 345 Brazilian high-performance athletes from diverse sports participated.
- Six previously identified athletic status-associated SNPs (ACTN3, FAAH, PPARGC1A, ADRB2, NOS3, VDR) were genotyped.
- Multivariate binomial analyses were performed, adjusting for age, sex, and tobacco consumption.
Main Results:
- No significant association was found between the evaluated SNPs and TMI.
- ACTN3 rs1815739 and FAAH rs324420 SNPs were identified as independent predictors of post-exercise MP.
- Adjusted odds ratios indicated a higher likelihood of MP with specific genotypes for ACTN3 and FAAH.
Conclusions:
- ACTN3 and FAAH gene variants may predispose athletes to post-exercise muscle pain.
- These genetic factors, combined with environmental determinants, could inform personalized prophylactic strategies.
- External validation is recommended to confirm the predictive utility of these SNPs for athlete well-being.
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