Concussion-associated polygenic profiles of elite male rugby athletes

Mark Antrobus, Jon Brazier, Peter Callus, Adam Herbert , Georgina Stebbings , Praval Khanal, Stephen H Day, Liam Kilduff , Mark Bennett, Robert Erskine , Stuart Raleigh , Malcolm Collins , Yannis Pitsiladis , Shane Heffernan , Alun 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
Article number820
Number of pages19
JournalGenes
Volume13
Issue number5
Early online date4 May 2022
DOIs
Publication statusPublished - 4 May 2022

Keywords

  • Genetics
  • Genetics (clinical)
  • rugby
  • genotype
  • concussion
  • brain
  • polymorphism

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