REVIEW
Genes and Injuries in Sports: A Systematic Review and Meta-Analysis
 
More details
Hide details
1
Department of Physical Education, Gdansk University of Physical Education and Sport, Gdansk, Poland.
 
2
Faculty of Physical Culture, Gdansk University of Physical Education and Sport, Gdansk, Poland.
 
3
Institute of Sports Sciences, The Jerzy Kukuczka Academy of Physical Education in Katowice, Katowice, Poland.
 
4
Department of Laryngology, Faculty of Medical Sciences, Medical University of Silesia in Katowice, Katowice, Poland.
 
 
Submission date: 2025-10-15
 
 
Final revision date: 2026-01-28
 
 
Acceptance date: 2026-03-06
 
 
Publication date: 2026-04-02
 
 
Corresponding author
Adam Maszczyk   

Institute of Sports Sciences, Academy of Physical Education in Katowice, -, -, Katowice, Poland
 
 
Journal of Human Kinetics 2026;101:179-198
 
KEYWORDS
TOPICS
ABSTRACT
Sports injuries are a significant concern for both professional and recreational athletes, influencing performance, longevity, and rehabilitation outcomes. While external factors such as biomechanics and workload management have been extensively studied, emerging research highlights the role of genetic predispositions in injury susceptibility. This systematic review and meta-analysis consolidated findings from 24 studies examining the association between genetic polymorphisms and sports-related injuries, with a focus on musculoskeletal tissue integrity, muscle function, and inflammatory response. The analysis identified key genetic markers, including COL1A1, COL5A1, and ACTN3, associated with ligament and tendon injuries, as well as the impact of cytokine gene variants (IL-6, TNF-α) on recovery processes. The pooled odds ratio suggested a significantly increased risk of injury among individuals carrying specific genetic variants. Subgroup analyses further revealed gene-specific effects on the injury type and athlete classification. Despite these insights, gene-environment interactions and methodological variability remain challenges in fully elucidating genetic contributions to injury risk. The findings underscore the potential for personalized injury prevention strategies based on genetic screening, enhancing both sports performance and rehabilitation efficiency.
REFERENCES (52)
1.
Ahmetov, I. I., Hall, E. C. R., Semenova, E. A., Pranckevičienė, E., & Ginevičienė, V. (2022). Advances in sports genomics. Advances in Clinical Chemistry, 107, 215–263. https://doi.org/10.1016/bs.acc....
 
2.
Bulbul, A., Ari, E., Apaydin, N., & Ipekoglu, G. (2023). The Impact of Genetic Polymorphisms on Anterior Cruciate Ligament Injuries in Athletes: A Meta-Analytical Approach. Biology, 12(12), 1526. https://doi.org/10.3390/biolog....
 
3.
Catterson, P., & Trueman, L. (2014). PP1 Identifying genetic risk factors for ACL rupture and/or Achilles tendinopathy in Newcastle United FC players. British Journal of Sports Medicine, 48, A6–A6. https://doi.org/10.1136/bjspor....
 
4.
Cieszczyk, P., Sawczuk, M., Maciejewska-Karlowska, A., & Ficek, K. (2011a). ACTN3 R577X polymorphism in top-level Polish rowers. Journal of Exercise Science & Fitness, 10(1), 12–15. https://doi.org/10.1016/j.jesf....
 
5.
Cięszczyk, P., Eider, J., Ostanek, M., Arczewska, A., Leońska-Duniec, A., Sawczyn, S., Ficek, K., & Krupecki, K. (2011b). Association of the ACTN3 R577X polymorphism in Polish power-oriented athletes. Journal of Human Kinetics, 28, 55–61. https://doi.org/10.2478/v10078....
 
6.
Cięszczyk P., Eider J., Arczewska A., Ostanek M., Leońska-Duniec A., Sawczyn S., Ficek K., Jascaniene N., Kotarska K., Sygit K. (2011c ). The HIF1A gene Pro582Ser polymorphism in Polish power-orientated athletes. Biol. Sport.;28(2), 111-114. https://doi.org/10.5604/945117.
 
7.
Del Coso, J., Rodas, G., Soler-Aguinaga, A., Campo, L., Resta, R., González-Ródenas, J., Ferrandis, J., & Moreno-Pérez, V. (2024). ACTN3 XX Genotype Negatively Affects Running Performance and Increases Muscle Injury Incidence in LaLiga Football Players. Genes, 15(3), 386. https://doi.org/10.3390/genes1....
 
8.
Ebert, J., Magi, A., Unt, E., Prans, E., Wood, D., & Kõks, S. (2023). Genome-wide association study identifying variants related to performance and injury in high-performance athletes. Experimental Biology and Medicine, 248, 1799–1805. https://doi.org/10.1177/153537....
 
9.
Eynon, N., Banting, L. K., Ruiz, J. R., Cieszczyk, P., Dyatlov, D. A., Maciejewska-Karlowska, A., Sawczuk, M., Pushkarev, V. P., Kulikov, L. M., Pushkarev, E. D., Femia, P., Stepto, N. K., Bishop, D. J., & Lucia, A. (2014). ACTN3 R577X polymorphism and team-sport performance: A study involving three European cohorts. Journal of Science and Medicine in Sport, 17(1), 102–106. https://doi.org/10.1016/j.jsam....
 
10.
Ficek, K., Cieszczyk, P., Kaczmarczyk, M., Maciejewska-Karłowska, A., Sawczuk, M., Cholewinski, J., Leonska-Dunie c, A., Stepien-Slodkowska, M., Zarebska, A., Stepto, N. K., Bishop, D. J., & Eynon, N. (2013a). Gene variants within the COL1A1 gene are associated with reduced anterior cruciate ligament injury in professional soccer players. Journal of Science and Medicine in Sport, 16(5), 396–400. https://doi.org/10.1016/j.jsam....
 
11.
Ficek, K., Stepien-Slodkowska, M., Kaczmarczyk, M., Maciejewska-Karlowska, A., Sawczuk, M., Leonska-Duniec, A., Cieszczyk, P., & Zarebska, A. (2013b). Does the A9285G polymorphism in collagen type I alpha1 gene associate with the risk of anterior cruciate ligament rupture? Biology of Sport, 30(2), 129–132. doi:10.2478/bjmg-2014-0022.
 
12.
Fukuyama, Y., Murakami, H., & Iemitsu, M. (2025). Single nucleotide polymorphisms and tendon/ligament injuries in athletes: A systematic review and meta-analysis. International Journal of Sports Medicine, 46(1), 3–21. doi: 10.1055/a-2419-4359.
 
13.
Guo, R., Gao, S., Shaxika, N., Aizezi, A., Wang, H., Feng, X., & Wang, Z. (2024). Associations of collagen type 1 α1 gene polymorphisms and musculoskeletal soft tissue injuries: a meta-analysis with trial sequential analysis. Aging, 16(10), 8866–8879. https://doi.org/10.18632/aging....
 
14.
Gibbon, A., Raleigh, S. M., Ribbans, W. J., & Posthumus, M. (2020a). Functional COL1A1 variants are associated with the risk of acute musculoskeletal soft tissue injuries. Journal of Orthopaedic Research, 35(7), 1435–1441. doi: 10.1002/jor.24621 to ta sama praca co poniżej?.
 
15.
Gibbon, A., Raleigh, S., Ribbans, W., Posthumus, M., Collins, M., & September, A. (2020b). Functional COL1A1 variants are associated with the risk of acute musculoskeletal soft tissue injuries. Journal of Orthopaedic Research, 38, 2290–2298. https://doi.org/10.1002/jor.24....
 
16.
Łosińska, K., Cięszczyk, P., Ghiani, G., & Maszczyk, A. (2025). Effect Size and Replicability in Genetic Studies of Athletic Performance: A Meta-Analytical Review. Genes, 16. https://doi.org/10.3390/genes1....
 
17.
Juginović, A., Kekić, A., Aranza, I., Biloš, V., & Armanda, M. (2025). Next-Generation Approaches in Sports Medicine: The Role of Genetics, Omics, and Digital Health in Optimizing Athlete Performance and Longevity: A Narrative Review. Life (Basel, Switzerland), 15(7), 1023. https://doi.org/10.3390/life15....
 
18.
Leońska-Duniec, A., Maculewicz, E., Massidda, M., Buryta, M., Mastalerz, A., & Cięszczyk, P. (2024). Impact of the TTN C > T Polymorphism on Selected Variables of Aerobic and Anaerobic Capacity after a 12-Week Training Program. Journal of Human Kinetics, 94, 117–125. https://doi.org/10.5114/jhk/19....
 
19.
Leońska-Duniec, A. (2025). Genetic Susceptibility to Sport-Related Muscle Injuries: Insights from the Literature and Novel Gene Candidates. International Journal of Molecular Sciences, 26(22), 11175. https://doi.org/10.3390/ijms26....
 
20.
Lopes, L. R., Amaral, M. V. G., Goes, R. A., Tavares, V., Dias, F., Medeiros, R., Machado, D. E., & Perini, J. A. (2024). Tenascin-C-Matrix Metalloproteinase-3 Phenotype and the Risk of Tendinopathy in High-Performance Athletes: A Case-Control Study. Diagnostics (Basel, Switzerland), 14(22), 2469. https://doi.org/10.3390/diagno....
 
21.
Lopez-León, C., Tuvblad, D., & Forero, D. (2017). Sports genetics: the PPARA gene and athletes’ high ability in endurance sports. A systematic review and meta-analysis. Biology of Sport, 34(1), 15–24. https://doi.org/10.5604/208318....
 
22.
Lulińska-Kuklik, E., Rahim, M., Domańska-Senderowska, D., Ficek, K., Michałowska-Sawczyn, M., Moska, W., Kaczmarczyk, M., Brzeziański, M., Brzeziańska-Lasota, E., Cięszczyk, P., & September, A. (2018). Interactions Between COL5A1 Gene and Risk of the Anterior Cruciate Ligament Rupture. Journal of Human Kinetics, 62, 65–71. https://doi.org/10.1515/hukin-....
 
23.
Lv, Z., Gao, S., Cheng, P., Liang, S., Yu, S., Yang, Q., & Chen, A. (2017). Association between polymorphism rs12722 in COL5A1 and musculoskeletal soft tissue injuries: a systematic review and meta-analysis. Oncotarget, 9, 15365–15374. https://doi.org/10.18632/oncot....
 
24.
Maestro, A., Del Coso, J., Aguilar-Navarro, M., Gutiérrez-Hellín, J., Morencos, E., Revuelta, G., Ruiz Casares, E., Perucho, T., & Varillas-Delgado, D. (2022). Genetic profile in genes associated with muscle injuries and injury etiology in professional soccer players. Frontiers in Genetics, 13, 1035899. https://doi.org/10.3389/fgene.....
 
25.
Mijaică, R., Tohănean, D., Alexe, D., & Balint, L. (2025). Physical Performance and Sports Genetics: A Systematic Review of Candidate Gene Polymorphisms Involved in Team Sports. Genes, 16. https://doi.org/10.3390/genes1....
 
26.
McAuley, A.B.T., Hughes, D.C., Tsaprouni, L.G., Herbert A.J., Jackson D.T. & Kelly A.L. (2023). A Systematic Review of the Genetic Predisposition to Injury in Football. J. of Sci. in Sport And Exercise 5, 97–115. https://doi.org/10.1007/s42978....
 
27.
Papadimitriou, I. D., Lucia, A., Pitsiladis, Y. P., Pushkarev, V. P., Dyatlov, D. A., Orekhov, E. F., Artioli, G. G., Guilherme, J. P. L. F., Lancha, A. H., Ginevičienė, V., Cieszczyk, P., Maciejewska-Karlowska, A., Sawczuk, M., Muniesa, C. A., Kouvatsi, A., Massidda, M., Calò, C. M., Garton, F., Houweling, P. J., Wang, G., Austin, K., Druzhevskaya, A. M., Astratenkova, I. V., Ahmetov, I. I., Bishop, D. J., North, K. N., & Eynon, N. (2016). ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: A multi-cohort study. BMC Genomics, 17(1), 285. https://doi.org/10.1186/s12864....
 
28.
Petr, A., Maciejewska-Skrendo, A., Zając, A., Chycki, J., & Štastný, P. (2020). Association of Elite Sports Status with Gene Variants of Peroxisome Proliferator Activated Receptors and Their Transcriptional Coactivator. International Journal of Molecular Sciences, 21(1), 162. https://doi.org/10.3390/ijms21....
 
29.
Pickering, J., & Kiely, B. (2019). Can Genetic Testing Predict Talent? A Case Study of 5 Elite Athletes. International Journal of Sports Physiology and Performance, 14(5), 625–631. https://doi.org/10.1123/ijspp.....
 
30.
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. American Journal of Sports Medicine, 37(11), 2234–2240. doi: 10.1177/0363546509338266.
 
31.
Pruna, R., Artells, R., Ribas, J., Montoro, B., Cos, F., Muñoz, C., Rodas, G., & Maffulli, N. (2013). Single nucleotide polymorphisms associated with non-contact soft tissue injuries in elite professional soccer players: influence on degree of injury and recovery time. BMC Musculoskeletal Disorders, 14, 221. https://doi.org/10.1186/1471-2....
 
32.
Prończuk, M., Motowidło, J., Lulińska, E., Skalski, D. T., Markowski, J., Pilch, J., Kostrzewa, M., Terbalyan, A., Skotniczny, K., & Maszczyk, A. (2024). The effect of 6-week EEG-biofeedback training in normobaric hypoxia and normoxia conditions on reaction time in elite judo athletes. Baltic Journal of Health and Physical Activity, 16(3), 3. https://doi.org/10.29359/BJHPA....
 
33.
Prończuk, M., Skalski, D., Łosińska, K., Maszczyk, A., & Gołaś, A. (2025). Neuromechanical adaptations to EMG-guided SSC training in elite badminton players: a predictive multivariate approach. Frontiers in Sports and Active Living, 7, 1634656. https://doi.org/10.3389/fspor.....
 
34.
Reichert, L., Hacker, S., Mutz, M., Raab, M., Wiese, L., Krüger, K., & Zentgraf, K. (2025). How Much Can the Genotype Predict Phenotypical Power Performance in Elite Male and Female Athletes?. Journal of Human Kinetics, 95, 95–109. https://doi.org/10.5114/jhk/19....
 
35.
Rodas, G., Osaba, L., Arteta, D., Pruna, R., Fernández, D., & Lucia, A. (2019). Genomic Prediction of Tendinopathy Risk in Elite Team Sports. International Journal of Sports Physiology and Performance, 15(4), 489–495. https://doi.org/10.1123/ijspp.....
 
36.
Salles, J. I., Amaral, M. V., Aguiar, D. P., Lira, D. A., Quinelato, V., Bonato, L. L., Duarte, M. E., Vieira, A. R., & Casado, P. L. (2015). BMP4 and FGF3 haplotypes increase the risk of tendinopathy in volleyball athletes. Journal of Science and Medicine in Sport, 18(2), 150–155. https://doi.org/10.1016/j.jsam....
 
37.
Sivertsen, E., Haug, K., Kristianslund, E., Trøseid, A., Parkkari, J., Lehtimäki, T., Mononen, N., Pasanen, K., & 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. American Journal of Sports Medicine, 47, 52–58. https://doi.org/10.1177/036354....
 
38.
Skalski, D., Kostrzewa, M., Prończuk, M., Markowski, J., Pilch, J., Żak, M., & Maszczyk, A. (2024). The effect of EEG biofeedback training frequency and environmental conditions on simple and complex reaction times. Bioengineering, 11(12), 1208. https://doi.org/10.3390/bioeng....
 
39.
Skalski, D., Prończuk, M., Stastny, P., Łosińska, K., Drozd, M., Toborek, M., Aschenbrenner, P., & Maszczyk, A. (2025a). Evaluation of the Impact of External Conditions on Arm Positioning During Punches in MMA Fighters: A Comparative Analysis of 2D and 3D Methods. Sensors (Basel, Switzerland), 25(11), 3270. https://doi.org/10.3390/s25113....
 
40.
Skalski, D. T., Łosińska, K., Prończuk, M., Markiel, A., Markowski, J., Pilch, J., Motowidło, J., Stastny, P., & Maszczyk, A. (2025b). Spasticity and pain and the improvement of muscle strength in athletes with partial spinal cord injury. Baltic Journal of Health and Physical Activity, 17(1), 10. https://doi.org/10.29359/BJHPA....
 
41.
Skalski D. T., Pronczuk M., Losinska K., Lulinska E., Motowidlo J., Zurowska-Cegielska J., Bartosz-Jefferies M, & Maszczyk A. (2025c). Electromyography normalization and assessment methods for muscle activity: A systematic review and meta-analysis. Baltic Journal of Health and Physical Activity, 17(3), 4. https://doi.org/10.29359/BJHPA....
 
42.
Skalski, D., Łosińska, K., Prończuk, M., Tyrała, F., Trybek, G., Cięszczyk, P., Kuliś, S., Maszczyk, A. & Pietraszewski, P. (2025d). Effects of real-time EEG neurofeedback training on cognitive, mental, and motor performance in elite athletes: a systematic review and meta-analysis. Biomedical Human Kinetics, 17(1), 249–260. https://doi.org/10.2478/bhk-20....
 
43.
Sun, Z., Cięszczyk, P., Humińska-Lisowska, K., Michałowska-Sawczyn, M., & Yue, S. (2023). Genetic Determinants of the Anterior Cruciate Ligament Rupture in Sport: An Up-to-Date Systematic Review. Journal of Human Kinetics, 88, 105–117. https://doi.org/10.5114/jhk/16....
 
44.
Sun, Z., Cięszczyk, P., & Bojarczuk, A. (2025). COL5A1 rs13946 Polymorphism and Anterior Cruciate Ligament Injury: Systematic Review and Meta-Analysis. International Journal of Molecular Sciences, 26(13), 6340. https://doi.org/10.3390/ijms26....
 
45.
Varillas-Delgado, D., Gutiérrez-Hellín, J., & Maestro, A. (2022). Genetic Profile in Genes Associated with Sports Injuries in Elite Endurance Athletes. International Journal of Sports Medicine, 44(1), 64–71. https://doi.org/10.1055/a-1917....
 
46.
Varley, I., Hughes, D., Greeves, J., Stellingwerff, T., Ranson, C., Fraser, W., & Sale, C. (2015). RANK/RANKL/OPG pathway: genetic associations with stress fracture period prevalence in elite athletes. Bone, 71, 131–136. https://doi.org/10.1016/j.bone....
 
47.
Varley, I., Greeves, J., Sale, C., Friedman, E., Moran, D., Yanovich, R., Wilson, P., Gartland, A., Hughes, D., Stellingwerff, T., Ranson, C., Fraser, W., & Gallagher, J. (2016). Functional polymorphisms in the P2X7 receptor gene are associated with stress fracture injury. Purinergic Signalling, 12, 103–113. https://doi.org/10.1007/s11302....
 
48.
Vermeulen, S., Bleecker, C., Spanhove, V., Segers, V., Willems, T., Roosen, P., Ridder, R., & Vanrenterghem, J. (2025). Comparison of Jump-Landing Biomechanics during and after Fatigue: Investigation on the Optimal Timing of Screenings under Fatigue. Journal of Human Kinetics, 99, 55–65. https://doi.org/10.5114/jhk/20....
 
49.
Weyerstraß, K. F. J., Stewart, K., Wesselius, A., & Zeegers, M. (2017). Nine genetic polymorphisms associated with power athlete status - A Meta-Analysis. Journal of Science and Medicine in Sport, 20(6), 543–549. https://doi.org/10.1016/j.jsam....
 
50.
Williams, A. G., & Folland, J. P. (2008). Similarity of polygenic profiles limits the potential for elite human physical performance. Journal of Physiology, 586(1), 113–121. https://doi.org/10.1113/jphysi....
 
51.
Zarębska, A., Sawczyn, S., Kaczmarczyk, M., Ficek, K., Maciejewska-Karłowska, A., Sawczuk, M., Leońska-Duniec, A., Eider, J., Grenda, A., & Cięszczyk, P. (2013). Association of rs699 (M235T) polymorphism in the AGT gene with power but not endurance athlete status. Journal of Strength and Conditioning Research, 27(10), 2898–2903. https://doi.org/10.1519/JSC.0b....
 
52.
Zhou, Y., Wang, R., Chen, S., Wu, L., & Zhu, J. (2021). Matrix metalloproteinase 9 gene promoter region -1562 C/T single nucleotide polymorphism increases the susceptibility to hypertensive disorders of pregnancy: a meta-analysis. Clinical and Experimental Obstetrics & Gynecology, 48, 245–252. https://doi.org/10.31083/j.ceo....
 
eISSN:1899-7562
ISSN:1640-5544
Journals System - logo
Scroll to top