Study of the association of the T869C polymorphism of the transforming growth factor-β1 gene with polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is a common multifactorial disorder characterized by hyperandrogenism, insulin resistance and chronic oligoanovulation. In addition, a number of females with PCOS have ovaries with multiple cysts, an irregular or no menstrual cycle and an imbalance of female hormones compared with normal controls. The transforming growth factor β1 (TGF‑β1) gene is one of the genes associated with obesity and type 2 diabetes, which are characteristic symptoms of PCOS. The present study, therefore, investigated the association between the T869C polymorphism of the TGF‑β1 gene, a single nucleotide polymorphism (SNP) of TGF‑β1 and PCOS. The genomic DNA from 285 patients with PCOS and 129 healthy control individuals was used in the present study. P<0.05 was considered to indicate a statistically significant difference between the groups. The present study findings suggested that the frequency of genotypes provided no significant association between the T869C polymorphism in the TGF‑β1 gene and patients with PCOS. Although the present study concluded that the T869C polymorphism in the TGF‑β1 gene is not associated with the pathogenesis of PCOS, further studies regarding the correlation between other SNPs of the TGF‑β1 gene and PCOS are required.