Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes

Antrobus, Mark R. and Brazier, Jon and Callus, Peter C. and Herbert, Adam J. and Stebbings, Georgina K. and Khanal, Praval and Day, Stephen H. and Kilduff, Liam P. and Bennett, Mark A. and Erskine, Robert M. and Raleigh, Stuart M. and Collins, Malcolm and Pitsiladis, Yannis P. and Heffernan, Shane M. and Williams, Alun G. (2022) Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes. Genes, 13 (5). p. 820. ISSN 2073-4425

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Due to the high-velocity collision-based nature of elite rugby league and union, the risk of sustaining a concussion is high. Occurrence of and outcomes following a concussion are probably affected by the interaction of multiple genes in a polygenic manner. This study investigated whether suspected concussion-associated polygenic profiles of elite rugby athletes differed from non-athletes and between rugby union forwards and backs. We hypothesised that a total genotype score (TGS) using eight concussion-associated polymorphisms would be higher in elite rugby athletes than non-athletes, indicating selection for protection against incurring or suffering prolonged effects of, concussion in the relatively high-risk environment of competitive rugby. In addition, multifactor dimensionality reduction was used to identify genetic interactions. Contrary to our hypothesis, TGS did not differ between elite rugby athletes and non-athletes ( ≥ 0.065), nor between rugby union forwards and backs ( = 0.668). Accordingly, the TGS could not discriminate between elite rugby athletes and non-athletes (AUC ~0.5), suggesting that, for the eight polymorphisms investigated, elite rugby athletes do not have a more 'preferable' concussion-associated polygenic profile than non-athletes. However, the (rs4680) and (rs10445337) GC allele combination was more common in rugby athletes (31.7%; < 0.001) and rugby union athletes (31.8%; < 0.001) than non-athletes (24.5%). Our results thus suggest a genetic interaction between (rs4680) and (rs10445337) assists rugby athletes in achieving elite status. These findings need exploration vis-à-vis sport-related concussion injury data and could have implications for the management of inter-individual differences in concussion risk.

Item Type: Article
Identification Number:
28 April 2022Accepted
4 May 2022Published Online
Uncontrolled Keywords: rugby; genotype; concussion; brain; polymorphism; genetics
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 > CAH03-01-07 - genetics
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: 07 Jul 2022 13:30
Last Modified: 07 Jul 2022 13:30

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