The PPARGC1A gene Gly482Ser in Polish and Russian athletes

J Sports Sci. 2012;30(1):101-13. doi: 10.1080/02640414.2011.623709. Epub 2011 Nov 29.

Abstract

Peroxysome proliferator-activated receptor gamma coactivator-1-alpha (PGC-1α; encoded by the gene PPARGC1A in humans) is a crucial component in training-induced muscle adaptation because it is a co-activator of transcriptional factors that control gene expression in coordinated response to exercise. It has been suggested that a Gly482Ser substitution in PPARGC1A has functional relevance in the context of human disorders and athletic performance. To test this hypothesis, we examined the genotype distribution of PPARGC1A Gly482Ser in a group of Polish athletes and confirmed the results obtained in a replication study of Russian athletes. We found that the 482Ser allele was under-represented in the cohort of Polish and Russian athletes examined compared with unfit controls (P < 0.0001). A statistically significant low frequency of the 482Ser allele was observed among the endurance,strength-endurance, and sprint-strength groups of Polish athletes (P = 0.019, P = 0.022, and P < 0.0001, respectively). The replication study revealed that the 482Ser allele was also less prevalent in Russian endurance and strength-endurance athletes (P = 0.029 and P < 0.0001, respectively). Our results suggest that the PPARGC1A Gly482Ser polymorphism is associated with elite endurance athletic status. These findings support the hypothesis that the PPARGC1A 482Ser allele may impair aerobic capacity: thus, the Gly482 allele may be considered a beneficial factor for endurance performance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Athletes*
  • Athletic Performance
  • Cohort Studies
  • European Continental Ancestry Group / genetics
  • Female
  • Heat-Shock Proteins / genetics*
  • Humans
  • Male
  • Muscle Strength / genetics
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha
  • Physical Endurance / genetics*
  • Poland
  • Polymorphism, Genetic
  • Russia
  • Transcription Factors / genetics*
  • Young Adult

Substances

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