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Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes

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

Genes, Volume: 13, Issue: 5, Start page: 820

Swansea University Authors: Liam Kilduff Orcid Logo, Mark Bennett, Shane Heffernan Orcid Logo, Alun Williams

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DOI (Published version): 10.3390/genes13050820

Abstract

Due to the high-velocity collision-based nature of elite rugby league and union, the risk of sus-taining 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...

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Published in: Genes
ISSN: 2073-4425
Published: MDPI AG 2022
Online Access: Check full text

URI: https://cronfa.swan.ac.uk/Record/cronfa59926
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Abstract: Due to the high-velocity collision-based nature of elite rugby league and union, the risk of sus-taining 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 pro-longed 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 poly-morphisms investigated, elite rugby athletes do not have a more ‘preferable’ concus-sion-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.
Keywords: rugby; genotype; concussion; brain; polymorphism; genetics
College: Faculty of Science and Engineering
Funders: This research received no external funding. The APC was funded by the University of Northampton
Issue: 5
Start Page: 820