Abrahams Shameemah, McFie Sarah, Lacerda Miguel, Patricios Jon, Suter Jason, September Alison V, Posthumus Michael
Division of Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Science, University of Cape Town, Cape Town, South Africa.
Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
BMJ Open Sport Exerc Med. 2019 Feb 2;5(1):e000465. doi: 10.1136/bmjsem-2018-000465. eCollection 2019.
Concussion occurs when biomechanical forces transmitted to the head result in neurological deficits. Personality may affect the balance between safe and dangerous play potentially influencing concussion risk. Dopamine receptor D2 () and dopamine receptor D4 () genetic polymorphisms were previously associated with personality traits.
This case-control genetic association study investigated the associations of (1) and genotypes with concussion susceptibility and personality, (2) personality with concussion susceptibility and (3) the statistical model of genotype, personality and concussion susceptibility.
In total, 138 non-concussed controls and 163 previously concussed cases were recruited from high school (n=135, junior), club and professional rugby teams (n=166, senior). Participants were genotyped for rs12364283 (A>G), rs1076560 (C>A) and rs1800955 (T>C) genetic variants. Statistical analyses including structural equation modelling were performed using the R environment and STATA.
The rs1800955 CC genotype (p=0.014) and inferred (rs12364283-rs1076560) (rs1800955) A-C-C allele combination (p=0.019) were associated with decreased concussion susceptibility in juniors. The rs1800955 TT and CT genotypes were associated with low reward dependence in juniors (p<0.001) and seniors (p=0.010), respectively. High harm avoidance was associated with decreased concussion susceptibility in juniors (p=0.009) and increased susceptibility in seniors (p=0.001). The model showed that a genetic variant was associated with personality while personality was associated with concussion susceptibility.
These findings highlight the linear relationship between genetics, personality and concussion susceptibility. Identifying a genetic profile of 'high risk' behaviour, together with the development of personalised behavioural training, can potentially reduce concussion risk.
当传递至头部的生物力学力导致神经功能缺损时，就会发生脑震荡。人格可能会影响安全与危险行为之间的平衡，从而潜在地影响脑震荡风险。多巴胺受体D2（）和多巴胺受体D4（）基因多态性先前与人格特质相关。
本病例对照基因关联研究调查了（1）和基因型与脑震荡易感性及人格的关联，（2）人格与脑震荡易感性的关联，以及（3）基因型、人格和脑震荡易感性的统计模型。
总共从高中（n = 135，初中）、俱乐部和职业橄榄球队（n = 166，高中）招募了138名未发生脑震荡的对照者和163名既往有脑震荡史的患者。对参与者进行了rs12364283（A>G）、rs1076560（C>A）和rs1800955（T>C）基因变异的基因分型。使用R环境和STATA进行包括结构方程模型在内的统计分析。
rs1800955 CC基因型（p = 0.014）和推断的（rs12364283 - rs1076560）（rs1800955）A - C - C等位基因组合（p = 0.019）与初中学生脑震荡易感性降低相关。rs1800955 TT和CT基因型分别与初中学生（p < 0.001）和高中学生（p = 0.010）的低奖励依赖相关。高回避伤害与初中学生脑震荡易感性降低（p = 0.009）和高中学生易感性增加（p = 0.001）相关。该模型表明，基因变异与人格相关，而人格与脑震荡易感性相关。
这些发现突出了基因、人格和脑震荡易感性之间的线性关系。识别“高风险”行为的基因特征，并开展个性化行为训练，可能会降低脑震荡风险。
