ACTN3 (R577X) genotype is associated with Australian football league players

Author Identifier

Jodie Cochrane Wilkie

Simon Laws

Document Type

Journal Article

Publication Title

Journal of Strength and Conditioning Research


National Strength and Conditioning Association


School of Medical and Health Sciences / Centre for Precision Health / Centre for Exercise and Sports Science Research / Exercise Medicine Research Institute / Australian Centre for Research into Injury in Sport and its Prevention (ACRISP)




Australian Government Research Training Scholarship Cancer Council of Western Australia Postdoctoral Research Fellowship


Jacob, Y., Hart, N. H., Cochrane, J. L., Spiteri, T., Laws, S. M., Jones, A., . . . Anderton, R. S. (2022). ACTN3 (R577X) genotype is associated with Australian football league players. Journal of Strength and Conditioning Research, 36(2), 573-576.


Genetic variants in the angiotensin-converting enzyme (ACE) and alpha actinin-3 (ACTN3) genes have been associated with elite sport athletic performance. This study aimed to investigate the frequency of each polymorphism in a cohort of elite Australian football (AF) players. To achieve this, 47 players from an Australian Football League (AFL) club and 59 healthy age matched controls with no history of elite sporting competition were recruited for this study. Each subject provided saliva samples through buccal swab for DNA extraction and genotyping, with group comparisons made using χ2 and odds ratio analysis. There was no significant difference in ACE I/D genotype between healthy control and elite AF players. The ACTN3 XX genotype was significantly underrepresented in AFL players (4.3%) compared with healthy controls (28.8%, p = 0.003). In addition, there was a greater representation of the R allele in elite AF players (70.2%) when compared with healthy controls (50%; χ2 = 8.834, p = 0.002). This is the first study to investigate genetic variants in elite AF players, with results suggesting that the ACTN3 gene may play a significant role explaining aspects of athletic performance in AF.



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