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

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.