PGC-1β和PRC基因多态性位点与优秀耐力运动员运动能力的关联性及机制研究

    SNPs in PGC-1β and PRC Genes Associated with Elite Athletic Status and Upregulate the Gene Expression

    • 摘要: 目的:探讨过氧化物酶体增殖受体γ辅激活因子1家族基因多态性位点与优秀耐力运动员运动能力的关联性及作用机制。方法:应用Case-Control实验设计,分析47个单核苷酸多态性位点在235名优秀耐力运动员和504名对照组的分布特征。采用双荧光素酶报告基因的方法分析阳性关联多态性位点的生物学功能。结果:1)过氧化物酶体增殖受体γ辅激活因子1β的4个多态性位点,rs17110586、rs32579、rs2161257、rs17600568,过氧化物酶体增殖受体γ辅激活因子相关共活化因子的2个多态性位点:rs7114388、rs4817960的基因型和等位基因在优秀运动员与对照组分布频率有显著性差异;过氧化物酶体增殖受体γ辅激活因子1β的rs251466仅等位基因分布频率达到显著性。2)rs17600568和rs4917960不改变相对荧光素酶活性。rs2161257下调相对荧光素酶活性,但2个纯合子之间没有显著性差异。rs251466、rs17110586、rs32579和rs7114388上调相对荧光素酶活性,但rs32579,2个纯合子之间没有显著性差异;其余3个多态性位点在2个纯合子之间有显著性差异,在运动员频率高的基因型有显著高的相对荧光素酶活性。结论:rs17110586和rs17114388与优秀耐力运动员的运动能力状态关联,并且上调基因转录。

       

      Abstract: Objective:To explore the association of polymorphisms in peroxisome proliferator-activated receptor-γcoactivator-1family genes with elite endurance athlete status.Methods:This paper compared genotypic/allelic frequencies in 47single nucleotide polymorphisms(SNPs)of the two genes(PGC-1βand PRC)between 235elite runners and 504healthy non-athletes from the same ethnic background(Hans Chinese),and used the dual-luciferase reporter assay to analyse the functional significance of the associated SNPs.Results:The genotype and allele frequencies of 6 SNPs(rs17110586,rs32579,rs2161257,rs17600568,rs7114388 and rs4817960)are significant different between elite endurance athletes and controls,4in PGC1βand 2in PRC,respectively.The allele frequency of rs251466is significant different between athletes and controls.rs17600568and rs4917960do not change the relative luciferase activity.rs2161257down-regulate it and rs32579up-regulate it,but the two homozygous do not have significant difference.rs251466,rs17110586and rs17114388up-regulate the relative luciferase activity,and there is significant difference between two homozygous.Conclusion:The findings suggest that rs17110586and rs17114388polymorphisms have functional significance and show evidence of association with elite endurance performance in Northern Chinese Han population.

       

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