ICBAS-Institute of Biomedical Sciences, University of Porto, 4050-313 Porto, Portugal.
Portuguese Ministry of Education, 1399-025 Lisbon, Portugal.
Genes (Basel). 2023 Oct 16;14(10):1946. doi: 10.3390/genes14101946.
Gene variation linked to physiological functions is recognised to affect elite athletic performance by modulating training and competition-enabling behaviour. The () has been investigated as a good candidate for drug targeting, and recently, its single-nucleotide polymorphism (SNP) rs324420 was reported to be associated with athletic performance. Given the implications, the biological pathways of this genetic polymorphism linked to elite athletic performance, considering sport type, psychological traits and sports injuries, need to be dissected. Thus, a narrative review of the literature concerning the biological mechanisms of this SNP was undertaken. In addition to its role in athletic performance, rs324420 is also involved in important mechanisms underlying human psychopathologies, including substance abuse and neural dysfunctions. However, cumulative evidence concerning the C385A variant is inconsistent. Therefore, validation studies considering homogeneous sports modalities are required to better define the role of this SNP in elite athletic performance and its impact on stress coping, pain regulation and inflammation control.
基因变异与生理功能有关，被认为通过调节训练和比赛使能行为来影响精英运动员的表现。促肾上腺皮质激素释放激素 (CRH) 已被研究作为药物靶向的一个很好的候选物，最近有报道称其单核苷酸多态性 (SNP) rs324420 与运动表现有关。考虑到这一影响，需要剖析与精英运动表现相关的这种遗传多态性的生物途径，考虑运动类型、心理特征和运动损伤。因此，对该 SNP 的生物学机制进行了文献的叙述性综述。除了在运动表现中的作用外，rs324420 还参与了人类精神病理学的重要机制，包括物质滥用和神经功能障碍。然而，关于 C385A 变体的累积证据并不一致。因此，需要考虑同质运动方式的验证研究，以更好地定义该 SNP 在精英运动表现中的作用及其对压力应对、疼痛调节和炎症控制的影响。
