Shandong Han Women With Polycystic Ovary Syndrome Cyp17 Gene Polymorphism With Hyperandrogenism Correlation Study

Aim: To investigate the polymorphism of CYP17 gene in patients with polycystic ovary syndrome (PCOS) in Han nationality, with emphasis on the relationship between the gene polymorphism and high blood testosterone level or hirsutism in PCOS patients. Methods: Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) was employed for the substitution of T→C at - 34 bp in CYP17 gene from genomic DNA of 329 patients with PCOS, together with 275 healthy controls. In addition, enzyme-linked immunosorbent assay (ELISA) was used to analyze testosterone levels in patients with PCOS. F-G system was taken to evaluate hirsutism.Results: The frequency of CYP17 genotype A1A1, A1A2, A2A2 were16.7%,44.1% and 39.2% in PCOS and 10.9%, 54.91% and 34.19% in control group, respectively. The genotype distributions were significantly different between PCOS group and the control group while there was no statistically difference in the the frequency of genotype A2A2 . And the frequencies of allele A1 and A2 were no significantly different between the two groups. The blood testosterone levels in subgroups Al A2. and A2A2 of PCOS patients showed no significantly different with which in A1A1 subgroup. Furthermore, the frequencies of allele A2 in hyperandrogenism subgroup and non-hyperandrogenism subgroup of PCOS patients were no significantly different.Conclusion: The substitution of - 34 bp (T→C) of CYP17 gene is a frequent polymorphism. In this regard, CYP17 might not be virulence gene of PCOS and also, might not modulate the testosterone level in PCOS.