Gene variants previously associated with reduced soft-tissue injury risk: Part 2 - Polygenic associations with elite status in Rugby

Brazier, Jon and Antrobus, Mark R and Herbert, Adam J. and Callus, Peter C and Khanal, Praval and Stebbings, Georgina K and Day, Stephen H and Heffernan, Shane M and Kilduff, Liam P and Bennett, Mark A and Erskine, Robert M and Raleigh, Stuart M and Collins, Malcolm and Pitsiladis, Yannis P and Williams, Alun G (2022) Gene variants previously associated with reduced soft-tissue injury risk: Part 2 - Polygenic associations with elite status in Rugby. European Journal of Sport Science. ISSN 1746-1391

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Abstract

Part 1 of this genetic association series highlighted several genetic variants independently associated with elite status in rugby. However, it is highly likely that the genetic influence on elite status is polygenic due to the interaction of multiple genes. Therefore, the aim of the present study was to investigate whether polygenic profiles of elite rugby athletes differed from non-athletes utilising 13 genetic polymorphisms previously associated with tendon/ligament injury. Total genotype score (TGS) was calculated and multifactor dimensionality reduction (MDR) was used to calculate SNP-SNP epistasis interactions. Based on our elite rugby data from Part 1, mean TGS was significantly higher in elite rugby athletes (52.1 ± 10.7) than non-athletes (48.7 ± 10.8). There were more elite rugby athletes (54%) within the upper TGS quartile, and fewer (46%) within the lower quartile, compared to non-athletes (31% and 69%, respectively; = 5·10), and the TGS was able to distinguish between elite rugby athletes and non-athletes (area under the curve = 0.59; 95% confidence interval 0.55-0.63;  = 9·10). Furthermore, MDR identified a three-SNP model of rs12722, rs3196378 and rs4919510 that was best able to predict elite athlete status, with a greater frequency of the CC-CC-CC genotype combination in elite rugby athletes (9.8%) than non-athletes (5.3%). We propose that elite rugby athletes possess "preferable" musculoskeletal soft-tissue injury-associated polygenic profiles that have helped them achieve success in the high injury risk environment of rugby. These data may, in future, have implications for the individual management of musculoskeletal soft-tissue injury. Elite rugby athletes have preferable polygenic profiles to non-athletes in terms of genetic variants previously associated with musculoskeletal soft-tissue injury.The total genotype score was able to distinguish between elite rugby athletes and non-athletes. rs12722, rs3196378 and rs4919510 produced the best model for predicting elite athlete status.We propose that elite rugby athletes may have an inherited advantage to achieving elite status due to an increased resistance to soft-tissue injury.

Item Type: Article
Identification Number: https://doi.org/10.1080/17461391.2022.2155877
Dates:
DateEvent
30 November 2022Accepted
12 December 2022Published Online
Uncontrolled Keywords: Genetics, polygenic, elite status, ligament, tendon, rugby
Subjects: CAH02 - subjects allied to medicine > CAH02-05 - medical sciences > CAH02-05-04 - anatomy, physiology and pathology
CAH03 - biological and sport sciences > CAH03-01 - biosciences > CAH03-01-08 - molecular biology, biophysics and biochemistry
CAH03 - biological and sport sciences > CAH03-02 - sport and exercise sciences > CAH03-02-01 - sport and exercise sciences
Divisions: Faculty of Health, Education and Life Sciences > Centre for Life and Sport Sciences (C-LASS)
Depositing User: Adam Herbert
Date Deposited: 27 Feb 2023 11:54
Last Modified: 27 Feb 2023 11:54
URI: https://www.open-access.bcu.ac.uk/id/eprint/14208

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