Do PPARGC1A and PPARalpha polymorphisms influence sprint or endurance phenotypes?

Scand J Med Sci Sports. 2010 Feb;20(1):e145-50. doi: 10.1111/j.1600-0838.2009.00930.x. Epub 2009 Apr 20.


Functional Gly482Ser (rs8192678) and G/C (rs4253778) polymorphisms in the Peroxisome proliferator-activated receptor gamma coactivator1 (PPARGC1A) and Peroxisome proliferator-activated receptor alpha (PPARalpha) genes, respectively, have been associated with mRNA and protein activity. The aim of this study was to determine their frequency distribution among 155 Israeli athletes (endurance athletes and sprinters) and 240 healthy controls. Results showed that there was a significant difference in PPARGC1A Ser482Gly polymorphism genotype frequencies between endurance athletes and sprinters (P=0.005) as well as between endurance athletes and controls (P=0.0003). However, the sprinters' genotype and allele frequencies were similar to that of the control group. A significantly lower proportion of PPARGC1A Ser482 allele (0.25) was noted for the endurance athletes compared with controls (0.43, P=0.0001). Endurance athletes showed a trend of a higher yet a not significant proportion of the PPARalpha GG genotype compared with sprinters (P=0.051). As we compared between the subgroups of top-level endurance athletes and top-level sprinters, as well as between those of top-level and national-level endurance athletes, we reached more prominent results. In conclusion, our data indicate that a lower frequency of the Ser482 allele and possibly a higher frequency of the GG genotype are associated with increased endurance performance ability.

MeSH terms

  • Adult
  • Exercise / physiology*
  • Female
  • Gene Frequency
  • Heat-Shock Proteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • PPAR alpha / genetics*
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha
  • Phenotype
  • Physical Endurance / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Running / physiology*
  • Transcription Factors / genetics*
  • Young Adult


  • Heat-Shock Proteins
  • PPAR alpha
  • PPARGC1A protein, human
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha
  • Transcription Factors