Genetic factors and anterior cruciate ligament injury risk in professional football players: COL3A1 (rs1800255) and COL5A1 (rs12722) polymorphisms

Year 2023, Volume: 9 Issue: 3, 195 - 203, 30.09.2023

Gökhan İpekoğlu , Halil İbrahim Çakır , Nihan Bozkurt Alpay Bülbül , Sadegul Tuncer Savkin , Necdet Apaydın

https://doi.org/10.31459/turkjkin.1329105

Cited By: 1

Abstract

This study was conducted to investigate the genotype and allele distributions of COL3A1 (rs1800255) and COL5A1 (rs12722) polymorphisms of professional footballers who have suffered at least 2 anterior cruciate ligament (ACL) injuries non-contact and professional footballers who have never had a ligament injury. The research group consists of 108 professional men's football players ACL group (n=45), Control group (n=63) with at least 10 years of football background. The results ACL and control groups were compared by Chi-square or Fischer’s exact test. There were no significant differences noted neither in terms of genotype distribution of COL3A1 (rs1800255) nor A-allele frequency distribution between control (CON) and ACL group. A highly significant difference in the allele distribution was noted for COL5A1 (rs12722) with the T-allele significantly less frequent in CON than ACL. The TT genotype compared to the C alleles (TC + CC) showed significant relationship between the TT genotype and ACL injury potential in the dominant model. However, it was not showing significance in the recessive (TT + TC vs. CC). In conclusion, it can be said that professional football players who have the COL5A1 rs12722 C allele have about 2 times lower risk of anterior cruciate ligament injury. In the COL3A1 rs1800255 polymorphism, there is no relationship between the groups in terms of genotypes and allele distribution.

Keywords

ACL, COL3A1, COL5A1, gene, football, polymorphism

Supporting Institution

GOP BAP

Project Number

2021/23

References

• Agel, J., Evans, T. A., & Dick, R. (2007). Descriptive epidemiology of collegiate men’s soccer injuries: National Collegiate Athletic Association Injury Surveillance System, 1988–1989 through 2002–2003. J Athl Train, 42(2), 270–277.
• Alvarez-Romero, J., Laguette, M. J. N., Seale, K., Jacques, M., Voisin, S., Hiam, D., ... Eynon, N. (2021). Genetic variants within the COL5A1 gene are associated with ligament injuries in physically active populations from Australia, South Africa, and Japan. Eur J Sport Sci, 30, 1-10.
• Bangsbo, J. (1994). Energy demands in competitive soccer. J Sports Sci, 12, 5–12.
• Banos, C. C., Thomas, A. H., & Kuo, C. K. (2008). Collagen fibrillogenesis in tendon development: current models and regulation of fibril assembly. Birth defects research. Part C, Embryo Today: Reviews, 84(3), 228-244.
• Birk, D. E., Fitch, J. M., Babiarz, J. P., Doane, K. J., & Linsenmayer, T. F. (1990). Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter. J Cell Sci, 95, 649–657.
• Bishop, D., Girard, O., & Mendez-Villanueva, A. (2011). Repeated-sprint ability–part II: recommendations for training. Sports Med, 41(9), 741–756.
• Brooks, J. H. M., Fuller, C. W., Kemp, S. P. T., & Reddin, D. B. (2005). Epidemiology of injuries in English professional rugby union: part 1 match injuries. Br J Sports Med, 39, 757–66.
• Dvorak, J., Junge, A. (2000). Football injuries and physical symptoms. Are view of the literature. Am J Sports Med, 28(5), 3-9.
• Frank, C. B. (2004). Ligament structure, physiology and function. J Musculoskelet Neuronal Interact, 4, 199-201.
• Fujiwara, K., Jindatip, D., Kikuchi, M., & Yashiro, T. (2010). In situ hybridization reveals that type I and III collagens are produced by pericytes in the anterior pituitary gland of rats. Cell Tissue Res, 342(3), 491-495.
• Heffernan, S. M., Kilduff, L. P., Erskine, R. M., Day, S. H., Stebbings, G. K., Cook, C. J., et al. (2017). COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby. BMC Genomics,18(8), 29-37.
• Liu, S. H., Yang, R. S., al Shaikh, R., & Lane, J. M. (1995). Collagen in tendon, ligament, and bone healing. A current review. Clin Orthop Relat Res, 318, 265-278.
• Lulińska-Kuklik, E., Rahim, M., Domańska-Senderowska, D., Ficek, K., Michałowska-Sawczyn, M., Moska, W., ... September, A. V. (2018). Interactions between gene and risk of the anterior cruciate ligament rupture. J Hum Kinet, 62(1), 65-71.
• Marshall, S. W., Padua, D., McGrath, M. (2007). Incidence of ACL injuries. In T. E. Hewett, S. J. Schultz & L. Y. Griffin (Eds.), Understanding and preventing noncontact ACL injuries. Champaign, IL: Human Kinetics.
• Mokone, G. G., Schwellnus, M. P., Noakes, T. D., & Collins, M. (2006). The COL5A1 gene and achilles tendon pathology. Scand J Med Sci Sports, 16, 19-26.
• O’Connel, K., Saunders, C. J., & Collins, M. (2013). Collagen gene sequence variants in exercise-related traits. Centr Eur J Sport Sci Med, 1, 3–17.
• O’Connell, K., Knight, H., Ficek, K., Leonska-Duniec, A., Maciejewska-Karlowska, A., Sawczuk, M., ... Collins, M. (2015). Interactions between collagen gene variants and risk of anterior cruciate ligament rupture. Eur J Sport Sci, 15(4), 341-350.
• Parkkari, J., Pasanen, K., Mattila, V. M., Kannus, P., & Rimpela, A. (2008). The risk for a cruciate ligament injury of the knee in adolescents and young adults: a population-based cohort study of 46 500 people with a 9 year follow-up. Br J Sports Med, 42, 422–426.
• Posthumus, M., September, A. V., O’Cuinneagain, D., van der Merwe, W., Schwellnus, M. P., & Collins, M. (2010). The association between the COL12A1 gene and anterior cruciate ligament ruptures. Br J Sports Med, 44, 1160-1165.
• Posthumus, M., September, A. V., O’Cuinneagain, D., van der Merwe, W., Schwellnus, M. P., Collins, M. (2009). The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants. The American Journal of Sports Medicine, 37(11), 2234–2240.
• Posthumus, M., September, A. V., Schwellnus, M. P., & Collins, M. (2010). The COL5A1 gene and musculoskeletal soft-tissue injuries. South African Journal of Sports Medicine, 22(2), 38-41.
• Raleigh, S. M., van der Merwe, L., Ribbans, W. J., Smith, R. K., Schwellnus, M. P., & Collins, M. (2009). Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene. Br J Sports Med, 43(7), 514-520.
• September, A. V., Cook, J., Handley, C. J., van der Merwe, L., Schwellnus, M. P., & Collins, M. (2009). Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations. Br J Sports Med, 43(5), 357-365.
• Sivertsen, E. A., Haug, K. B. F., Kristianslund, E. K, Trøseid, A. M. S., Parkkari, J., Lehtimäki, T., ... Bahr, R. (2019). No association between risk of anterior cruciate ligament rupture and selected candidate collagen gene variants in female elite athletes from high-risk team sports. Am J Sports Med, 47(1), 52-58.
• Stępień-Słodkowska, M., Ficek, K., Maciejewska-Karłowska, A., Sawczuk, M., Ziętek, P., Król, P., et al. (2015). Overrepresentation of the COL3A1 AA genotype in Polish skiers with anterior cruciate ligament injury. Biol Sport, 32(2), 143-147.
• Stolen, T., Chamari, K., Castagna, C., & Wisloff, U. (2005). Physiology of soccer: an update. Sports Med, 35(6), 501–536.
• Szumilo, P. A. (2014). Review studies about the genes encoding the collagen proteins in the context of the anterior cruciate ligament rupture. Centr Eur J Sport Sci Med, 1, 91-97.
• Tifford, C. D., & Jackson, D. W. (2001). Simultaneous bilateral anterior cruciate ligament ruptures in a cheerleader. Arthroscopy,17(4), 17.
• Zhao, D., Zhang, Q., Lu, Q., Hong, C., Luo, T., Duan, Q., ... Zhao, W. (2020). Correlations between the genetic variations in the COL1A1, COL5A1, COL12A1, and β-fibrinogen genes and anterior cruciate ligament injury in Chinese Patients. J Athl Train, 55(5), 515-521.
• Zois, J., Bishop, D. J., & Ball, K. (2011). High-intensity warm-ups elicit superior performance to acurrent soccer warm-up routine. J Sci Med Sport, 14(6), 522–528.