Genetic Variations in Susceptibility to Traumatic Muscle Injuries and Muscle Pain Among Brazilian High-Performance Athletes

Overview

Journal Int J Mol Sci

Publisher MDPI

Specialties Biochemistry
Chemistry
Molecular Biology

Date 2024 Mar 28

PMID 38542272

Authors

Ines Soares Marques

Valeria Tavares

Beatriz Vieira Neto

Lucas Rafael Lopes

Rodrigo Araujo Goes

Joao Antonio Matheus Guimaraes

Jamila Alessandra Perini

Rui Medeiros

Affiliations

Soon will be listed here.

Abstract

Traumatic muscle injuries (TMIs) and muscle pain (MP) negatively impact athletes' performance and quality of life. Both conditions have a complex pathophysiology involving the interplay between genetic and environmental factors. Yet, the existing data are scarce and controversial. To provide more insights, this study aimed to investigate the association of single-nucleotide polymorphisms (SNPs) previously linked to athletic status with TMI and MP after exercise among Brazilian high-performance athletes from different sports modalities (N = 345). The impact of important environmental determinants was also assessed. From the six evaluated SNPs ( rs1815739, rs324420, rs8192678, rs1042713, rs1799983, and rs731236), none was significantly associated with TMI. Regarding MP after exercise, rs1815739 (CC/CT vs. TT; adjusted odds ratio (aOR) = 1.90; 95% confidence interval (95%Cl), 1.01-3.57) and rs324420 (AA vs. AC/CC; aOR = 2.30; 95%Cl, 1.08-4.91) were independent predictors according to multivariate binomial analyses adjusted for age (≥23 vs. <23 years), sex (male vs. female), and tobacco consumption (yes vs. no). External validation is warranted to assess the predictive value of rs1815739 and rs324420. This could have implications for prophylactic interventions to improve athletes' quality of life.

References

Del Coso J, Hiam D, Houweling P, Perez L, Eynon N, Lucia A . More than a 'speed gene': ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries. Eur J Appl Physiol. 2018; 119(1):49-60. DOI: 10.1007/s00421-018-4010-0. View

Cunha A, Nelson-Filho P, Maranon-Vasquez G, de Carvalho Ramos A, Dantas B, Sebastiani A . Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns. Arch Oral Biol. 2018; 97:85-90. DOI: 10.1016/j.archoralbio.2018.09.018. View

Greising S, Corona B, Call J . Musculoskeletal Regeneration, Rehabilitation, and Plasticity Following Traumatic Injury. Int J Sports Med. 2020; 41(8):495-504. DOI: 10.1055/a-1128-7128. View

Silva H, Tavares V, Silva M, Neto B, Cerqueira F, Medeiros R . rs324420 Polymorphism Is Associated with Performance in Elite Rink-Hockey Players. Biology (Basel). 2022; 11(7). PMC: 9312224. DOI: 10.3390/biology11071076. View

Bromley S, Drew M, Talpey S, McIntosh A, Finch C . A systematic review of prospective epidemiological research into injury and illness in Olympic combat sport. Br J Sports Med. 2017; 52(1):8-16. DOI: 10.1136/bjsports-2016-097313. View

Varley I, Hughes D, Greeves J, Stellingwerff T, Ranson C, Fraser W . The association of novel polymorphisms with stress fracture injury in Elite Athletes: Further insights from the SFEA cohort. J Sci Med Sport. 2017; 21(6):564-568. DOI: 10.1016/j.jsams.2017.10.038. View

de Moraes Martins C, Genelhu V, Pimentel M, Celoria B, Mangia R, Aveta T . Circulating Endocannabinoids and the Polymorphism 385C>A in Fatty Acid Amide Hydrolase (FAAH) Gene May Identify the Obesity Phenotype Related to Cardiometabolic Risk: A Study Conducted in a Brazilian Population of Complex Interethnic Admixture. PLoS One. 2015; 10(11):e0142728. PMC: 4641669. DOI: 10.1371/journal.pone.0142728. View

da Silva T, Rocha A, Lacchini R, Marques C, Silva E, Tanus-Santos J . Association of polymorphisms of endothelial nitric oxide synthase (eNOS) gene with the risk of primary open angle glaucoma in a Brazilian population. Gene. 2012; 502(2):142-6. DOI: 10.1016/j.gene.2012.04.047. View

Balogh Z, Reumann M, Gruen R, Mayer-Kuckuk P, Schuetz M, Harris I . Advances and future directions for management of trauma patients with musculoskeletal injuries. Lancet. 2012; 380(9847):1109-19. DOI: 10.1016/S0140-6736(12)60991-X. View

10.

Del Coso J, Rodas G, Buil M, Sanchez-Sanchez J, Lopez P, Gonzalez-Rodenas J . Association of the rs1815739 Polymorphism with Physical Performance and Injury Incidence in Professional Women Football Players. Genes (Basel). 2022; 13(9). PMC: 9498709. DOI: 10.3390/genes13091635. View

11.

Massidda M, Voisin S, Culigioni C, Piras F, Cugia P, Yan X . ACTN3 R577X Polymorphism Is Associated With the Incidence and Severity of Injuries in Professional Football Players. Clin J Sport Med. 2017; 29(1):57-61. DOI: 10.1097/JSM.0000000000000487. View

12.

Lin J, Handschin C, Spiegelman B . Metabolic control through the PGC-1 family of transcription coactivators. Cell Metab. 2005; 1(6):361-70. DOI: 10.1016/j.cmet.2005.05.004. View

13.

MacArthur D, North K . A gene for speed? The evolution and function of alpha-actinin-3. Bioessays. 2004; 26(7):786-95. DOI: 10.1002/bies.20061. View

14.

Lee F, Houweling P, North K, Quinlan K . How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'. Biochim Biophys Acta. 2016; 1863(4):686-93. DOI: 10.1016/j.bbamcr.2016.01.013. View

15.

Silva H, Silva M, Cerqueira F, Tavares V, Medeiros R . Genomic profile in association with sport-type, sex, ethnicity, psychological traits and sport injuries of elite athletes. J Sports Med Phys Fitness. 2021; 62(3):418-434. DOI: 10.23736/S0022-4707.21.12020-1. View

16.

Cornett E, Carroll Turpin M, Pinner A, Thakur P, Selvan Gnana Sekaran T, Siddaiah H . Pharmacogenomics of Pain Management: The Impact of Specific Biological Polymorphisms on Drugs and Metabolism. Curr Oncol Rep. 2020; 22(2):18. DOI: 10.1007/s11912-020-0865-4. View

17.

Lisman P, de la Motte S, Gribbin T, Jaffin D, Murphy K, Deuster P . A Systematic Review of the Association Between Physical Fitness and Musculoskeletal Injury Risk: Part 1-Cardiorespiratory Endurance. J Strength Cond Res. 2017; 31(6):1744-1757. DOI: 10.1519/JSC.0000000000001855. View

18.

Vincent B, De Bock K, Ramaekers M, van den Eede E, Van Leemputte M, Hespel P . ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics. 2007; 32(1):58-63. DOI: 10.1152/physiolgenomics.00173.2007. View

19.

Yard E, Schroeder M, Fields S, Collins C, Comstock R . The epidemiology of United States high school soccer injuries, 2005-2007. Am J Sports Med. 2008; 36(10):1930-7. DOI: 10.1177/0363546508318047. View

20.

Lutz B, Marsicano G, Maldonado R, Hillard C . The endocannabinoid system in guarding against fear, anxiety and stress. Nat Rev Neurosci. 2015; 16(12):705-18. PMC: 5871913. DOI: 10.1038/nrn4036. View