Antrobus Mark R, Brazier Jon, Stebbings Georgina K, Day Stephen H, Heffernan Shane M, Kilduff Liam P, Erskine Robert M, Williams Alun G
Sports Genomics Laboratory, Department of Sport and Exercise Sciences, Manchester Metropolitan University, Manchester M1 5GD, UK.
Sport and Exercise Science, University of Northampton, Northampton NN1 5PH, UK.
Sports (Basel). 2021 Jan 22;9(2):19. doi: 10.3390/sports9020019.
Elite rugby league and union have some of the highest reported rates of concussion (mild traumatic brain injury) in professional sport due in part to their full-contact high-velocity collision-based nature. Currently, concussions are the most commonly reported match injury during the tackle for both the ball carrier and the tackler (8-28 concussions per 1000 player match hours) and reports exist of reduced cognitive function and long-term health consequences that can end a playing career and produce continued ill health. Concussion is a complex phenotype, influenced by environmental factors and an individual's genetic predisposition. This article reviews concussion incidence within elite rugby and addresses the biomechanics and pathophysiology of concussion and how genetic predisposition may influence incidence, severity and outcome. Associations have been reported between a variety of genetic variants and traumatic brain injury. However, little effort has been devoted to the study of genetic associations with concussion within elite rugby players. Due to a growing understanding of the molecular characteristics underpinning the pathophysiology of concussion, investigating genetic variation within elite rugby is a viable and worthy proposition. Therefore, we propose from this review that several genetic variants within or near candidate genes of interest, namely , , , , , , , , , and , warrant further study within elite rugby and other sports involving high-velocity collisions.
精英橄榄球联盟和联合会在职业体育中有着一些报告显示的最高脑震荡（轻度创伤性脑损伤）发生率，部分原因在于其全接触、基于高速碰撞的性质。目前，脑震荡是持球者和擒抱者在擒抱过程中最常报告的比赛伤病（每1000名球员比赛小时有8 - 28次脑震荡），并且有报告称认知功能下降以及长期健康后果，这些可能会结束球员生涯并导致持续的健康问题。脑震荡是一种复杂的表型，受环境因素和个体遗传易感性影响。本文回顾了精英橄榄球运动中的脑震荡发生率，并探讨了脑震荡的生物力学和病理生理学，以及遗传易感性如何影响发生率、严重程度和结果。已有报告称多种基因变异与创伤性脑损伤之间存在关联。然而，在精英橄榄球运动员中，致力于研究基因与脑震荡关联的工作很少。由于对脑震荡病理生理学基础的分子特征的认识不断增加，研究精英橄榄球运动中的基因变异是一个可行且有价值的命题。因此，我们从本综述中提出，在感兴趣的候选基因内部或附近的几种基因变异，即 、 、 、 、 以及 ，在精英橄榄球和其他涉及高速碰撞的运动中值得进一步研究。
