Department of Sport and Exercise Sciences, Manchester Metropolitan University Institute of Sport, Manchester Metropolitan University, Manchester M1 7EL, UK.
Sport and Exercise Science, University of Northampton, Northampton NN1 5PH, UK.
Genes (Basel). 2022 May 4;13(5):820. doi: 10.3390/genes13050820.
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.
由于精英橄榄球联盟和联盟的高速碰撞性质，遭受脑震荡的风险很高。脑震荡的发生和结果可能受到多种基因相互作用的影响。本研究调查了精英橄榄球运动员疑似与脑震荡相关的多基因谱是否与非运动员不同，以及橄榄球联盟前锋和后卫之间是否不同。我们假设，使用八个与脑震荡相关的多态性的总基因型评分（TGS）在精英橄榄球运动员中会高于非运动员，这表明在竞争激烈的橄榄球相对高风险环境中，对发生或遭受脑震荡的影响有保护作用。此外，多因素降维还用于识别遗传相互作用。与我们的假设相反，TGS 在精英橄榄球运动员和非运动员之间没有差异（p≥0.065），也没有在橄榄球联盟前锋和后卫之间差异（p=0.668）。因此，TGS 不能区分精英橄榄球运动员和非运动员（AUC~0.5），这表明，对于研究的八个多态性，精英橄榄球运动员的与脑震荡相关的多基因谱并不比非运动员更“有利”。然而，COMT（rs4680）和 MAPT（rs10445337）GC 等位基因组合在橄榄球运动员（31.7%；p<0.001）和橄榄球联盟运动员（31.8%；p<0.001）中比非运动员更常见（24.5%）。因此，我们的结果表明 COMT（rs4680）和 MAPT（rs10445337）之间存在遗传相互作用，这有助于橄榄球运动员达到精英状态。这些发现需要结合与运动相关的脑震荡损伤数据进行探讨，并且可能对脑震荡风险的个体差异管理产生影响。
