Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes

Mark R. Antrobus, Jon Brazier, Peter C. Callus, Adam J. Herbert, Georgina K. Stebbings, Praval Khanal, Stephen H. Day, Liam P. Kilduff, Mark A. Bennett, Robert M. Erskine, Stuart M. Raleigh, Malcolm Collins, Yannis P. Pitsiladis, Shane M. Heffernan, Alun G. Williams

Research output: Contribution to journalArticlepeer-review

Abstract

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 (p ≥ 0.065), nor between rugby union forwards and backs (p = 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 COMT (rs4680) and MAPT (rs10445337) GC allele combination was more common in rugby athletes (31.7%; p 0.001) and rugby union athletes (31.8%; p 0.001) than non-athletes (24.5%). Our results thus suggest a genetic interaction between COMT (rs4680) and MAPT (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.
Original languageEnglish
Number of pages13
JournalGenes
Volume13
Issue number5
DOIs
Publication statusPublished - 4 May 2022

Bibliographical note

This research received no external funding. The APC was funded by the University of Northampton. All data underpinning this publication are openly available from the University of Northampton Research Explorer.

Keywords

  • rugby
  • genotype
  • concussion
  • brain
  • polymorphism
  • genetics

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