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Resilience to orthostasis and haemorrhage: A pilot study of common genetic and conditioning mechanisms

机译:对直立和出血的复原力:常见遗传和调节机制的初步研究

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A major challenge presently is not only to identify the genetic polymorphisms increasing risk to diseases, but to also find out factors and mechanisms, which can counteract a risk genotype by developing a resilient phenotype. The objective of this study was to examine acquired and innate vagal mechanisms that protect against physical challenges and haemorrhages in 19 athletes and 61 non-athletes. These include examining change in heart rate variability (HF-HRV; an indicator of vagus activity) in response to orthostatic challenge, platelet count (PLT), mean platelet volume (MPV), and single-nucleotide polymorphisms in genes that encode several coagulation factors, PAI-1, and MTHFR. Individual differences in PLT and MPV were significant predictors, with opposite effects, of the profiles of the HF-HRV changes in response to orthostasis. Regular physical training of athletes indirectly (through MPV) modifies the genetic predisposing effects of some haemostatic factors (PAI-1 and MTHFR) on vagal tone and reactivity. Individual differences in vagal tone were also associated with relationships between Factor 12 C46T and Factor 11 C22771T genes polymorphisms. This study showed that genetic predispositions for coagulation are modifiable. Its potential significance is promoting advanced protection against haemorrhages in a variety of traumas and injuries, especially in individuals with coagulation deficits.
机译:当前的主要挑战不仅在于确定增加患病风险的遗传多态性,而且要找出可以通过发展有弹性的表型来抵消风险基因型的因素和机制。这项研究的目的是要检查获得性和固有的迷走神经机制,以防止19名运动员和61名非运动员的身体挑战和出血。这些措施包括检查对体位性挑战作出反应的心率变异性(HF-HRV;迷走神经活动的指标)的变化,血小板计数(PLT),平均血小板体积(MPV)和编码几种凝血因子的基因中的单核苷酸多态性,PAI-1和MTHFR。 PLT和MPV的个体差异是响应直立性的HF-HRV变化曲线的重要预测因子,具有相反的影响。间接(通过MPV)对运动员进行定期体育锻炼会修改某些止血因子(PAI-1和MTHFR)对迷走神经张力和反应性的遗传易感性。迷走神经张力的个体差异也与因子12 C46T和因子11 C22771T基因多态性之间的关系有关。这项研究表明,凝血的遗传易感性是可以改变的。其潜在的意义是促进针对各种创伤和伤害,特别是凝血功能障碍者的出血提供先进的保护。

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