Division of Pediatric-Adolescent Gynecology and Reconstructive Surgery, Second Department of Obstetrics and Gynecology, University of Athens, Medical School, Aretaieion Hospital, Athens, Greece.
Ann N Y Acad Sci. 2010 Sep;1205:185-91. doi: 10.1111/j.1749-6632.2010.05647.x.
The aim of the study was to examine the frequency and relationship of peroxisome proliferator-activated receptor (PPAR)-γ and PPAR-δ gene polymorphisms to polycystic ovary syndrome (PCOS) characteristics. We conducted a case-control study protocol, which included 183 PCOS women and 148 healthy volunteers. Genetic, clinical, hormonal, and metabolic characteristics of PCOS patients and controls were estimated and compared. Genotype and allele frequencies did not differ significantly. The Pro(12) Ala polymorphism in exon 2 of the PPAR-γ gene was found in low frequency. Regarding the polymorphism in exon 6, the T-allele carrier PCOS women had significantly lower total testosterone levels. Regarding the +294T/C polymorphism in the exon 4 of the PPAR-δ gene, the C-allele carrier PCOS women had significantly higher fasting glucose levels. In conclusion, the PPAR-γ gene polymorphisms do not appear to affect the risk for PCOS, except for the reduced testosterone levels. The +294T/C polymorphism in the exon 4 of the PPAR-δ gene seems to cause an increase in fasting glucose levels.
本研究旨在探讨过氧化物酶体增殖物激活受体（PPAR）-γ和 PPAR-δ基因多态性与多囊卵巢综合征（PCOS）特征的发生频率和关系。我们进行了一项病例对照研究方案，纳入了 183 名 PCOS 女性和 148 名健康志愿者。对 PCOS 患者和对照组的遗传、临床、激素和代谢特征进行了评估和比较。基因型和等位基因频率无显著差异。PPAR-γ 基因外显子 2 中的 Pro(12)Ala 多态性频率较低。关于外显子 6 的多态性，T 等位基因携带者的 PCOS 女性总睾酮水平显著降低。关于 PPAR-δ 基因外显子 4 中的+294T/C 多态性，C 等位基因携带者的 PCOS 女性空腹血糖水平显著升高。总之，除了降低的睾酮水平外，PPAR-γ 基因多态性似乎不会影响 PCOS 的发病风险。PPAR-δ 基因外显子 4 中的+294T/C 多态性似乎导致空腹血糖水平升高。
