Exon 6 and 2 Peroxisome Proliferator-Activated Receptor-γ Polymorphisms in Polycystic Ovary Syndrome

Obesity affects about 44% of women with polycystic ovary syndrome (PCOS). Peroxisome proliferator-activated receptor-gamma; (PPAR-γ) is one of the genes involved in the differentiation of adipose tissue. In an attempt to shed light on the high percentage of obesity in PCOS, we examined polymorphisms at exons 6 and 2 of the PPAR-γ gene in 100 PCOS patients and in 100 healthy controls matched for age and body mass index (BMI). The T allele frequency of exon 6 was significantly higher (P <0.05) in PCOS patients compared with control women. In addition, the BMI and leptin levels were significantly higher (P <0.05) in PCOS patients carrying the C→T substitution than in controls. There was no significant difference in leptin levels after normalization for BMI. The Pro₁₂Ala polymorphism at exon 2 was unrelated to BMI and/or leptin levels in PCOS women. In conclusion, the higher frequency of the C→T substitution in exon 6 of the PPAR-γ gene in PCOS women suggests that it plays a role in the complex pathogenetic mechanism of obesity in PCOS, whereas the Pro¹²Ala polymorphism does not seem to affect BMI in PCOS women.