Varillas-Delgado David
Exercise and Sport Science, Faculty of Health Sciences, Universidad Francisco de Vitoria, 28223 Pozuelo, Spain.
SPORTNOMICS S.L., 28922 Madrid, Spain.
Genes (Basel). 2024 Dec 20;15(12):1631. doi: 10.3390/genes15121631.
BACKGROUND/OBJECTIVES: The gene, encoding the PGC-1α protein, is a critical regulator of energy metabolism, influencing mitochondrial biogenesis, fatty acid oxidation, and carbohydrate metabolism. This narrative review aims to evaluate the role of the gene, with a specific focus on the c.1444G<A polymorphism (rs8192678), in sports performance, including its impact on aerobic capacity, muscle adaptation, and its potential implications for metabolic health.
A comprehensive literature search was conducted using databases such as PubMed, Scopus, Science Direct, and Web of Science, following PRISMA guidelines. Studies investigating the rs8192678 polymorphism in athletes, its relationship with physical performance, and its broader metabolic effects were included. Data were synthesized qualitatively, and heterogeneity among findings was assessed. The rs8192678 polymorphism influences sports performance differently.
the G allele is associated with enhanced mitochondrial efficiency, higher aerobic capacity, and a greater proportion of fatigue-resistant type I muscle fibers, benefiting endurance sports like cycling and triathlon. Conversely, the A allele correlates with reduced mitochondrial biogenesis and oxidative capacity, potentially impairing endurance but showing possible utility in strength-based sports. Furthermore, the A allele is linked to increased risks of metabolic conditions, including type 2 diabetes and obesity. Discrepancies in results highlight the influence of genetic, environmental, and training interactions.
the rs8192678 polymorphism plays a significant role in athletic performance and metabolic regulation. While the G allele confers advantages in endurance sports, the A allele presents mixed implications for strength and metabolic health. These findings support the potential for genetic profiling in personalized training and health interventions but emphasize the need for further research to clarify genotype-environment interactions.
背景/目的：编码PGC-1α蛋白的基因是能量代谢的关键调节因子，影响线粒体生物发生、脂肪酸氧化和碳水化合物代谢。本叙述性综述旨在评估该基因的作用，特别关注c.1444G<A多态性（rs8192678）在运动表现中的作用，包括其对有氧能力、肌肉适应的影响及其对代谢健康的潜在影响。
按照PRISMA指南，使用PubMed、Scopus、Science Direct和Web of Science等数据库进行全面的文献检索。纳入研究运动员中rs8192678多态性、其与身体表现的关系及其更广泛代谢影响的研究。对数据进行定性综合，并评估研究结果之间的异质性。rs8192678多态性对运动表现的影响各不相同。
G等位基因与线粒体效率提高、有氧能力增强以及抗疲劳的I型肌纤维比例增加有关，有利于自行车和铁人三项等耐力运动。相反，A等位基因与线粒体生物发生和氧化能力降低相关，可能损害耐力，但在力量型运动中可能有用。此外，A等位基因与代谢疾病风险增加有关，包括2型糖尿病和肥胖症。结果的差异凸显了遗传、环境和训练相互作用的影响。
rs8192678多态性在运动表现和代谢调节中起重要作用。虽然G等位基因在耐力运动中具有优势，但A等位基因对力量和代谢健康的影响较为复杂。这些发现支持了在个性化训练和健康干预中进行基因分型的潜力，但强调需要进一步研究以阐明基因型与环境的相互作用。
