心肺健康特征指标有氧耐力训练效果的遗传预测标记研究进展

Advances in the Genomic Predictors of the aerobic endurance Trainability for Cardiorespiratory Fitness Traits

运动训练后个体的机能水平受多种因素影响,其中环境和遗传因素在很大程度上起决定作用。某一群体可能因携带特定基因型对运动训练具有更高的敏感性,从而表现出更好的训练效果。训练效果的遗传学研究已开展40余年,在有氧耐力训练效果的个体差异领域,研究最系统,成果也最丰富,但有关心肺健康特征指标有氧耐力训练效果的遗传预测标记研究方兴未艾。为此,综述了迄今为止该领域的候选基因法及全基因组研究进展,旨在为相关研究的开展提供参考和研究方向。综述后发现,40余个基因的愈百位点/单体型与我国北方汉族人的有氧耐力训练敏感性相关,血管紧张素转化酶基因等18个候选基因的作用则有待商榷。在全基因组研究中,训练后在50 W功率输出水平下每搏量(SV50)和亚极量运动心率(HR50)分别与驱动蛋白家族成员5B基因编码区内的rs211302和位于cAMP反应元件连接蛋白1基因座5’区的rs2253206及rs2360969相关联;通过将转录物组学与基因组学技术结合,获得了11个可共同影响23%VO2max训练效果变化量的SNPs;而在多个HERITAGE项目研究中,则分别发现了与45%的VO2max训练效果个体差异显著相关的16个SNPs,100%影响HR50训练效果个体异质性的9个SNPs,以及20%影响20周标准耐力训练后60%VO2max强度运动下摄氧量(△VO260)的13个SNPs及单体型。

Personal exercise performance response to exercise training is multifactorial and in large extent determined by a range of environmental and genetic factors. One group may be more sensitive to exercise training because of carrying some particular genotypes,as well as showing a better trainability. Genomic research of trainability has been carried out for 40 years. The most comprehensive data on the individual differences in trainability come from the field of aerobic endurance,while the genomic predictor of the aerobic endurance trainability for cardiorespiratory fitness just been studied decades ago. Therefore,the purpose of the current review article was to update and evaluate recent candidate gene literature as well as genome-wide researches relevant to the advances in this field,so as to provide references and new directions for future research. In a series of experimental studies with candidate genes,about 100 SNPs/ haplo-types in almost 40 genes were found associated with the aerobic endurance trainability of northern Chinese Han origin lowlanders,while the function of other 18 genes,including ACE,were still not sure. In GWSL and GWAS researches,rs211302 in the kinesin family member 5B gene locus,as well as rs 2253206 and rs2360969 located in the 5’-region of the cAMP-responsive element binding protein 1 gene locus,were found associated with the training-induced changes in submaximal exercise（50 W）stroke volume（SV50）and heart rate（HR50）,respectively. Using phenotype linked to gene expression analysis strategy,a set of 11 SNPs that explained about 23% of the variance in VO2 max training response were identified. In a series of HERITAGE projects,16 SNPs were found accounting for 45% of the variance in VO2 max trainability,9 SNPs were found accounting for all of the heritable interindividual variability of the response to endurance exercise training and 13 SNPs/haplotypes were identified consistent with maximal heritability estimates of 23% of the phenotypic variance in the responses of oxygen consumption（ΔVO260）to a standardized 20-week endurance exercise training program.