Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes

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dc.contributor.authorAntrobus, Mark R
dc.contributor.authorBrazier, Jon
dc.contributor.authorCallus, Peter C
dc.contributor.authorHerbert, Adam J
dc.contributor.authorStebbings, Georgina K
dc.contributor.authorKhanal, Praval
dc.contributor.authorDay, Stephen H
dc.contributor.authorKilduff, Liam P
dc.contributor.authorBennett, Mark A
dc.contributor.authorErskine, Robert M
dc.contributor.authorRaleigh, Stuart M
dc.contributor.authorCollins, Malcolm
dc.contributor.authorPitsiladis, Yannis P
dc.contributor.authorHeffernan, Shane M
dc.contributor.authorWilliams, Alun G
dc.date.accessioned2022-07-21T09:39:44Z
dc.date.available2022-07-21T09:39:44Z
dc.date.issued2022-05-04
dc.date.updated2022-05-27T13:36:46Z
dc.description.abstractDue 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.en_US
dc.identifierdoi: 10.3390/genes13050820
dc.identifier.apacitationAntrobus, M. R., Brazier, J., Callus, P. C., Herbert, A. J., Stebbings, G. K., Khanal, P., ... Williams, A. G. (2022). Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes. <i>Genes</i>, 13(5), 820. http://hdl.handle.net/11427/36651en_ZA
dc.identifier.chicagocitationAntrobus, Mark R, Jon Brazier, Peter C Callus, Adam J Herbert, Georgina K Stebbings, Praval Khanal, Stephen H Day, et al "Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes." <i>Genes</i> 13, 5. (2022): 820. http://hdl.handle.net/11427/36651en_ZA
dc.identifier.citationAntrobus, M.R., Brazier, J., Callus, P.C., Herbert, A.J., Stebbings, G.K., Khanal, P., Day, S.H. & Kilduff, L.P. et al. 2022. Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes. <i>Genes.</i> 13(5):820. http://hdl.handle.net/11427/36651en_ZA
dc.identifier.ris TY - Journal Article AU - Antrobus, Mark R AU - Brazier, Jon AU - Callus, Peter C AU - Herbert, Adam J AU - Stebbings, Georgina K AU - Khanal, Praval AU - Day, Stephen H AU - Kilduff, Liam P AU - Bennett, Mark A AU - Erskine, Robert M AU - Raleigh, Stuart M AU - Collins, Malcolm AU - Pitsiladis, Yannis P AU - Heffernan, Shane M AU - Williams, Alun G AB - 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. DA - 2022-05-04 DB - OpenUCT DP - University of Cape Town IS - 5 J1 - Genes LK - https://open.uct.ac.za PY - 2022 T1 - Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes TI - Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes UR - http://hdl.handle.net/11427/36651 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/36651
dc.identifier.vancouvercitationAntrobus MR, Brazier J, Callus PC, Herbert AJ, Stebbings GK, Khanal P, et al. Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes. Genes. 2022;13(5):820. http://hdl.handle.net/11427/36651.en_ZA
dc.publisher.departmentDepartment of Human Biologyen_US
dc.publisher.facultyFaculty of Health Sciencesen_US
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.sourceGenesen_US
dc.source.journalissue5en_US
dc.source.journalvolume13en_US
dc.source.pagination820en_US
dc.source.urihttps://www.mdpi.com/journal/genes
dc.titleConcussion-Associated Polygenic Profiles of Elite Male Rugby Athletesen_US
dc.typeJournal Articleen_US
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