ABSTRACT
Objective To investigate the correlation between the CYP17 gene polymorphisms and hyperandrogenemia(HA) in Uygur women patients with polycystic ovary syndrome (PCOS ) .Methods 59 Uygur patients with PCOS were selected as the Uygur PCOS group and re-divided into the Uygur PCOS complicating HA group and Uygur PCOS non-complicating HA group . Meanwhile 18 Han patients with PCOS complicating HA were selected as the Han PCOS group .The polymerasechain reaction-restrictive fragment length polymorphism method was used to examine the basic group polymorphisms in the promoter region of CYP17 gene .Then the correlation between basic group locus polymorphism and Uygur PCOS complicating HA was analyzed .Results There was no statistically significant difference between TT ,TC and CC genotypes and T ,C allele frequencies in the Uygur PCOS non-complicating HA group and Uygur PCOS complicating HA group (P＞ 0 .05) .There was no statistically significant difference between TT ,TC and CC genotypes and T ,C allele frequencies in the Uygur PCOS complicating HA group and Han P-COS group(P＞0 .05) .The serum testosterone level in TT ,TC and CC genotypes patients of the Uygur PCOS complicating HA group was significantly higher than that in the Uygur PCOS non-complicating HA group(P＜0 .05) .Serum testosterone level had no statistically significant difference between TC ,CC genotypes and TT genotype patients of Uygur PCOS group(P＞0 .05) .Conclusion The distribution frequency of CYP17 genotypes does not increase the risk suffering from HA in Uygur women .Single nucleotide polymorphism in CYP17 gene promoter region had no obvious correlation with Uygur PCOS complicating HA occurrence .
ABSTRACT
The P450c17a enzyme has a central role in ovarian hyperandrogenism, which is a characteristic of polycystic ovary syndrome (PCOS). Several studies have suggested a possible role for the CYP17 gene, which codes for the enzyme P450c17a and the -34bp T-C polymorphism in the development of hyperandrogenism. The presence of the cytosine, know as A2 allele, has been associated with hyperandrogenism in patients with PCOS. Objective: To evaluate the frequency and association of the -34bp polymorphism in the CYP17 gene and determine its association with hormonal and metabolic characteristics in women with DM1. Patients and Methods: The CYP17 polymorphism was studied in 72 DM1 and 71 control women by PCR and RFLP analysis. The CYP17 genetic dosage was compared with the antropometrical characteristics and the serum concentrations of testosterone, androstenedione, DHEAS and 17OH progesterone in women with DM1. Results: Genotype A2/A2 was present in 20.8 percent and 7.1 percent of DM1 and controls, respectively (p = 0,034). Allele A2 was present in 40.3 percent and 27.5 percent of DM1 and healthy women, respectively (p = 0,031). No association between CYP17 genotypes and hormonal or metabolic characteristics was observed. Conclusion: This study shows that the frequency of the A2/A2 genotype was higher in women with DM1 than in the control group. However, no association between the presence of the polymorphism and circulating steroid levels or BMI was observed.