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 APOE, MAPT, IL6R, COMT, SLC6A4, 5-HTTLPR, DRD2, DRD4, ANKK1, BDNF and GRIN2A, warrant further study within elite rugby and other sports involving high-velocity collisions.

中文翻译：

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可能影响精英橄榄球脑震荡风险的遗传因素


精英橄榄球联盟和联盟在职业运动中报告的脑震荡（轻度创伤性脑损伤）发生率最高，部分原因在于其基于全接触高速碰撞的性质。目前，脑震荡是持球者和截球手在铲球过程中最常见的比赛伤害（每 1000 名球员比赛小时 8-28 次脑震荡），并且有报道称认知功能下降和长期健康后果可能导致比赛结束职业生涯并造成持续的健康不良。脑震荡是一种复杂的表型，受环境因素和个体遗传倾向的影响。本文回顾了精英橄榄球运动中脑震荡的发生率，并讨论了脑震荡的生物力学和病理生理学，以及遗传倾向如何影响发病率、严重程度和结果。据报道，多种遗传变异与创伤性脑损伤之间存在关联。然而，很少有人致力于研究精英橄榄球运动员脑震荡的遗传关联。由于对脑震荡病理生理学分子特征的了解不断加深，研究精英橄榄球中的遗传变异是一个可行且有价值的主张。因此，我们从这篇综述中提出，感兴趣的候选基因内或附近的几个遗传变异，即APOE 、 MAPT 、 IL6R 、 COMT 、 SLC6A4 、 5-HTTLPR 、 DRD2 、 DRD4 、 ANKK1 、 BDNF和GRIN2A ，值得在精英橄榄球中进行进一步研究以及其他涉及高速碰撞的运动。