Is there an interaction between PPARD T294C and PPARGC1A Gly482Ser polymorphisms and human endurance performance?

Exp Physiol. 2009 Nov;94(11):1147-52. doi: 10.1113/expphysiol.2009.049668. Epub 2009 Aug 7.


Functional Gly482Ser (rs8192678) and T294C (rs2016520) polymorphisms in the peroxisome proliferator-activated receptor gamma coactivator-1 (PPARGC1A) and peroxisome proliferator-activated receptor delta (PPARD) genes, respectively, have been associated with mRNA and/or protein activity. The aim of this study was to determine their frequency distribution among 155 Israeli athletes (endurance athletes and sprinters) and 240 healthy control subjects. There were no differences between the endurance athletes, the sprinters and the control group across the PPARD T294C genotypes (P = 0.62). Similarly, no statistical differences were found between the subgroups of elite-level endurance athletes (those who had represented Israel in a world track and field championship or in the Olympic Games) and national-level endurance athletes (P = 0.3), or between elite-level and national-level sprinters (P = 0.9). However, a combined influence of these two polymorphisms on endurance performance was found. The PPARD CC + PPARGC1A Gly/Gly genotypes were more frequently found in the elite endurance athletes than in national-level endurance athletes (P < 0.000). In the cohort of endurance athletes, the odds ratio of the 'optimal genotype' for endurance athletes (PPARD CC + PPARGC1A Gly/Gly + PPARGC1A Gly/Ser) being an elite-level athlete was 8.32 (95% confidence interval 2.2-31.4). In conclusion, the present study suggests that PPARD T294C is not associated with endurance performance. However, a higher frequency of the PPARGC1A Gly/Gly + PPARD CC genotype is associated with elite-level endurance athletes.

MeSH terms

  • Adult
  • Alleles
  • Athletic Performance / physiology
  • DNA / biosynthesis
  • DNA / genetics
  • Female
  • Gene Frequency
  • Genotype
  • Heat-Shock Proteins / genetics*
  • Heat-Shock Proteins / physiology*
  • Humans
  • Male
  • PPAR delta / genetics*
  • PPAR delta / physiology*
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha
  • Phenotype
  • Physical Endurance / genetics*
  • Physical Endurance / physiology*
  • Polymorphism, Genetic / physiology
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcription Factors / genetics*
  • Transcription Factors / physiology*


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