Polymorphism in the peroxisome proliferator-activated receptor-gamma gene in women with polycystic ovary syndrome

Hum Reprod. 2003 Mar;18(3):540-3. doi: 10.1093/humrep/deg128.


Background: In view of the strong evidence implicating peroxisome proliferator-activated receptor-gamma (PPARgamma) in adiposity and insulin resistance a study was carried out to investigate PPARgamma genotype frequencies in women with polycystic ovary syndrome (PCOS) and to elucidate its role in the pathogenesis of the syndrome.

Methods: The study involved 135 women with PCOS and 115 healthy control women who were genotyped for a known functional variant of the PPARgamma gene using single strand conformation polymorphism (SSCP) analysis.

Results: A significantly different allele distribution of the Pro12 Ala polymorphism of the PPARgamma gene was observed between the two groups, with the frequency of the variant Ala isoform being significantly reduced in the PCOS group (12.6%) when compared with the control group (19.1%) (P = 0.045), at an odds ratio of 0.609 (95% confidence interval: 0.374-0.991). The genotype distributions of the Pro12 Ala polymorphism in the PCOS and control groups were different with borderline significance (P = 0.051).

Conclusions: Our data support a role for PPARgamma gene polymorphism in the pathogenesis of PCOS, the presence of the Ala isoform being protective against the development of PCOS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Odds Ratio
  • Polycystic Ovary Syndrome / genetics*
  • Polycystic Ovary Syndrome / prevention & control
  • Polymorphism, Genetic*
  • Polymorphism, Single-Stranded Conformational
  • Protein Isoforms / genetics
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Transcription Factors / genetics*


  • Protein Isoforms
  • Receptors, Cytoplasmic and Nuclear
  • Transcription Factors