ACTN3 R577X Polymorphism and Anaerobic Performance in Ultimate Frisbee Players: A Preliminary Study

Abstract

Purpose: ACTN3 R577X polymorphism is a frequently studied gene polymorphism associated with athletic performance. Studies have demonstrated a strong association between the 577RR genotype and sprint and power-based sports. Ultimate Frisbee (UF) is a physically demanding sport requiring aerobic and anaerobic skills. This study aimed to evaluate the relationship between the ACTN3 R577X polymorphism and the anaerobic power capabilities of UF players. Methods: The study included 30 UF players in the study group (mean age ± SD 21.03 ± 2.04 years) and 30 volunteers in the control group (mean age ± SD 22.17 ± 1.39 years). Anaerobic power was assessed using vertical jump, running-based anaerobic sprint (RAST), triple hop, and closed kinetic chain upper extremity tests. Blood samples were genotyped using real-time polymerase chain reaction. RR, RX, and XX represent homozygous dominant, heterozygous dominant, and recessive genotypes, respectively. Results: Fatigue Index (FI) data from RAST test results was the only variable that differed between study and control groups (Study Group: 6.02 ± 3.52 vs. Control Group: 4.17 ± 1.71 watts/sec, p = 0.012). There was no statistically significant difference between the study and control groups in vertical jump, triple hop, and closed kinetic chain upper extremity test results. No statistically significant difference was found in anaerobic performance tests among the genotype groups in UF players. Conclusion: In this study conducted with limited sample size, the anaerobic performance of UF players was not found to be associated with ACTN3 R577X polymorphism. However, performing the same screening in larger sample groups in future studies may yield more efficient results.

Keywords

• ACTN3
• athletic performance
• genomics
• ultimate frisbee

Ultimate Frisbee Oyuncularında ACTN3 R577X Polimorfizmi ve Anaerobik Performans: Bir Ön Çalışma

Öz

Amaç: ACTN3 R577X polimorfizmi, atletik performansla ilişkili olarak sıklıkla çalışılan bir gen polimorfizmidir. Çok sayıda çalışma, 577RR genotipi ile sprint ve güce dayalı sporlar arasında güçlü bir ilişki olduğunu göstermiştir. Ultimate Frisbee (UF) hem aerobik hem de anaerobik beceriler gerektiren fiziksel olarak zorlayıcı bir spordur. Bu çalışmanın amacı, ACTN3 R577X polimorfizmi ile UF oyuncularının anaerobik güç yetenekleri arasındaki ilişkiyi değerlendirmektir. Yöntem: Çalışmaya çalışma grubunda 30 UF oyuncusu (ortalama yaş ± SD 21.03 ± 2.04 yıl) ve kontrol grubunda 30 gönüllü (ortalama yaş ± SD 22.17 ± 1.39 yıl) dahil edildi. Anaerobik güç dikey sıçrama, koşuya dayalı anaerobik sprint (RAST), üçlü sıçrama ve kapalı kinetik zincir üst ekstremite testleri kullanılarak değerlendirilmiştir. Kan örnekleri gerçek zamanlı polimeraz zincir reaksiyonu kullanılarak genotiplendirilmiştir. RR, RX ve XX sırasıyla homozigot dominant, heterozigot dominant ve resesif genotipleri temsil etmektedir. Sonuçlar: RAST testi sonuçlarından elde edilen Yorgunluk İndeksi (FI) verileri çalışma ve kontrol grupları arasında farklılık gösteren tek değişkendi (Çalışma Grubu: 6.02 ± 3.52 vs Kontrol Grubu: 4,17 ± 1,71 watt/sn, p = 0,012). Dikey sıçrama, üçlü sıçrama ve kapalı kinetik zincir üst ekstremite test sonuçlarında çalışma ve kontrol grupları arasında istatistiksel olarak anlamlı bir fark bulunmamıştır. UF oyuncularının genotip grupları arasında anaerobik performans testlerinde istatistiksel olarak anlamlı bir fark bulunmamıştır. Tartışma: Kısıtlı örneklem sayısı ile yapılan bu çalışmada, UF oyuncularının anaerobik performansı ACTN3 R577X polimorfizmi ile ilişkili bulunmamıştır. Ancak gelecek çalışmalarda aynı taramanın daha büyük örneklem gruplarında yapılması daha verimli sonuçlar verebilir.

Anahtar Kelimeler

• ACTN3
• atletik performans
• genomik
• ultimate frizbi

References

1. 1. Ehlert T, Simon P, Moser DA. Epigenetics in sports. Sports Med. 2013;43(2):93-110.
2. 2. Lobigs LM, Sottas P, Bourdon PC, Nikolovski Z, El‐Gingo M, Varamenti E, vd. A step towards removing plasma volume variance from the Athlete’s Biological Passport: The use of biomarkers to describe vascular volumes from a simple blood test. Drug Test Anal. 2018;10(2):294-300.
3. 3. Ahmetov I, Donnikov A, Trofimov D. Actn3 genotype is associated with testosterone levels of athletes. Biol Sport. 2014;31(2):105-8.
4. 4. Gomes C, Almeida JA, Franco OL, Petriz B. Omics and the molecular exercise physiology. Adv Clin Chem. 2020;96(3):55-84.
5. 5. John R, Dhillon MS, Dhillon S. Genetics and the elite athlete: our understanding in 2020. Indian J Orthop 2020;54(3):256-63.
6. 6. Jacob Y, Spiteri T, Hart NH, Anderton RS. The potential role of genetic markers in talent identification and athlete assessment in elite sport. Sports. 2018;6(3):88-104.
7. 7. Guth LM, Roth SM. Genetic influence on athletic performance. Curr Opin Pediatr 2013;25(6):653-8.
8. 8. Maffulli N, Margiotti K, Longo UG, Loppini M, Fazio VM, Denaro V. The genetics of sports injuries and athletic performance. M L T J. 2013;3(3):173-189.

9. 9. Ahmetov II, Egorova ES, Gabdrakhmanova LJ, Fedotovskaya ON. Genes and athletic performance: an update. Med Sport Sci. 2016(4);61:41-54.
10. 10. Ahmetov II, Fedotovskaya ON. Current progress in sports genomics. Adv Clin Chem. 2015;70(6):247-314.
11. 11. Pasqualetti M, Onori ME, Canu G, Moretti G, Minucci A, Baroni S, vd. The relationship between ACE, ACTN3 and MCT1 genetic polymorphisms and athletic performance in elite rugby union players: a preliminary study. Genes (Basel). 2022;13(6):969-81.
12. 12. MacArthur DG, North KN. A gene for speed? The evolution and function of α‐actinin‐3. Bioessays. 2004;26(7):786-95.
13. 13. Demirci B, Bulgay C, Ceylan Hİ, Öztürk ME, Öztürk D, Kazan HH, vd. Association of ACTN3 R577X polymorphism with elite basketball player status and training responses. Genes (Basel). 2023;14(6):1190-1201.
14. 14. Malyarchuk B, Derenko M, Denisova G. R577X polymorphism of alpha-actinin-3 in the human populations of Northeastern Asia. Russ J Genet Appl Res. 2018;8(1):59-64.
15. 15. Broos S, Malisoux L, Theisen D, van Thienen R, Ramaekers M, Jamart C, vd. Evidence for ACTN3 as a speed gene in isolated human muscle fibers. PloS One. 2016;11(3):e0150594.
16. 16. Krustrup P, Mohr M. Physical demands in competitive ultimate frisbee. J Strength Cond Res 2015;29(12):3386-91.
17. 17. Reynolds KH, Halsmer SE. Injuries from ultimate frisbee. Wis Med J 2006;105(6):46-9.
18. 18. Madueno MC, Kean CO, Scanlan AT. The sex-specific internal and external demands imposed on players during Ultimate Frisbee game-play. J Sports Med Phys Fitness. Kasım 2017;57(11):1407-14.
19. 19. Scanlan AT, Kean CO, Humphries BJ, Dalbo VJ. Physiological and fatigue responses associated with male and mixed-gender Ultimate Frisbee game play. J Strength Cond Res. 2015;29(9):2600-7.
20. 20. Palmer JA, Landers G, Buttfield A, Polglaze T. Physical demands of elite women’s ultimate frisbee between halves and across matches in an international tournament. J Strength Cond Res. 2022;36(3):838-44.
21. 21. Ergin E. The determination of the relationship between actn3 r577x polymorphism and explosive power in elite Turkish women volleyball players. [Doctorate Thesis] Celal Bayar Üniversitesi; 2016.
22. 22. Patterson DD, Peterson DF. Vertical Jump and Leg Power Norms for Young Adults. Meas Phys Educ Exerc Sci. 2004;8(1):33-41.
23. 23. Harman EA, Rosenstein MT, Frykman PN, Rosenstein RM, Kraemer WJ. Estimation of human power output from vertical jump. J Strength Cond Res. 1991;5(3):116-20.
24. 24. Keir DA, Thériault F, Serresse O. Evaluation of the running-based anaerobic sprint test as a measure of repeated sprint ability in collegiate-level soccer players. J Strength Cond Res. 2013;27(6):1671-8.
25. 25. Burgess K, Holt T, Munro S, Swinton P. Reliability and validity of the running anaerobic sprint test (RAST) in soccer players. J Train. 2016;5(2):24-9.
26. 26. Davey K, Read P, Coyne J, Jarvis P, Turner A, Brazier J, vd. An assessment of the hopping strategy and inter-limb asymmetry during the triple hop test: A test–retest pilot study. Symmetry (Basel). 2021;13(10):1890-1901.
27. 27. Lee DR, Kim LJ. Reliability and validity of the closed kinetic chain upper extremity stability test. J Phys Ther Sci. 2015;27(4):1071-3.
28. 28. He Q, Hu O, Chen M, Liang Z, Liang L, Chen Z. A novel and cost-efficient allele-specific PCR method for multiple SNP genotyping in a single run. Anal Chim Acta. 2022;1229(9):340-66.
29. 29. Mayo O. A century of Hardy–Weinberg equilibrium. Twin Res Hum Genet. 2008;11(3):249-56.
30. 30. Eynon N, Banting LK, Ruiz JR, Cieszczyk P, Dyatlov DA, Maciejewska-Karlowska A, vd. ACTN3 R577X polymorphism and team-sport performance: a study involving three European cohorts. J Sci Med Sport. 2014;17(1):102-6.
31. 31. Massidda M, Bachis V, Corrias L, Piras F, Scorcu M, Culigioni C, vd. ACTN3 R577X polymorphism is not associated with team sport athletic status in Italians. Sports Med Open. 2015;1(1):1-5.
32. 32. Eynon N, Duarte J, Oliveira J, Sagiv M, Yamin C, Meckel Y, vd. ACTN3 R577X polymorphism and Israeli top-level athletes. Int J Sports Med. 2009;30(9):695-8.
33. 33. Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, vd. ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet. Eylül 2003;73(3):627-31.
34. 34. Ben-Zaken S, Eliakim A, Nemet D, Meckel Y. Genetic variability among power athletes: The stronger vs. the faster. J Strength Cond Res. 2019;33(6):1505-11.
35. 35. Eynon N, Alves AJ, Meckel Y, Yamin C, Ayalon M, Sagiv M, vd. Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance? Metabolism. 2010;59(6):861-5.
36. 36. Kobayashi T, Seki S, Hwang I. Relationship of muscle power and bone mineral density with the α-actinin-3 R577X polymorphism in Japanese female athletes from different sport types: An observational study. Medicine. 2022;101(45):e31685-91.
37. 37. Ulucan, K. Literature review of Turkish sportsmen in terms of ACTN3 R577X polymorphism. Clin Exp Health Sci 2016;6(1):44–7
38. 38. Ghosh A, Mahajan PB. Can genotype determine the sports phenotype? A paradigm shift in sports medicine. J Basic Clin Physiol Pharmacol. 2016;27(4):333-9.