RESUMO
BACKGROUND: Polycystic ovary syndrome (PCOS) is known as the most common endocrine and metabolic disorder in the reproductive-age women. Due to the effects of PCOS on the physical and mental health, the investigation of the factors affecting the development of PCOS is crucial. Hexose-6-phosphate dehydrogenase (H6PD) is a microsomal enzyme that catalyzes the first two reactions of the oxidative chain of the pentose phosphate pathway. The present study examined the polymorphisms of the H6PD gene (R453Q and D151A) in PCOS patients of Iranian Kurdish women.
Materials and Methods: In this case-control study, a total, of 200 female volunteers in two equal groups participated in our study. The PCOS patients were selected based on the Rotterdam diagnostic criteria. The association of H6PD gene polymorphisms, D151A and R453Q, with the development of PCOS were investigated. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping. Statistical analysis was applied by the SPSS (version 16) software.
Results: Statistically significant lower frequencies of AA+AG genotype (37% vs. 55%, P=0.01) and A allele (22.5%
vs. 34%, P=0.01) of R453Q were observed in the patients compared to the controls. In the case of D151A, no significant
differences were observed in the frequency of genotypes and alleles between the two groups. CONCLUSION: The findings of this study suggest that variants of H6PD R453Q affect the risk of PCOS.
RESUMO
BACKGROUND: Polycystic ovary syndrome (PCOS) is the known endocrinopathy disorder in the reproductive phase of women's life. More than half of the women with PCOS suffer from obesity which impacts the ovarian functions by leptin levels. Here the R223Q and P1019P polymorphisms of leptin receptor (LEPR) gene were examined in PCOS patients of Kurdish women from west of Iran. MATERIALS AND METHODS: In this case-control study, one hundred women with PCOS and 100 healthy women bearing similar age range were selected based on Rotterdam diagnostic criteria. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to genotype polymorphisms LEPR (R223Q and P1019P), by respectively the BsaWI and NcoI restriction enzymes. Pearson's chi-square (χ2) test was used to analyze the variation in genetic distributions and unconditional logistic regression model was used to calculate the odds ratio (OR; 95% CI). RESULTS: Genotype frequencies of the R223Q and P1019P polymorphisms showed significant difference between the patients with PCOS compared to the controls. G allele (R223Q) reduced the risk of PCOS about 0.49-fold (P<0.001). While, T allele (P1019P) increased the risk of PCOS 2.69-fold (P<0.001). CONCLUSION: It can be concluded that the R223Q and P1019P polymorphisms showed a significant association with PCOS susceptibility risk. It seems that G allele (R223Q) with reducing OR had a protective effect on this syndrome, while T allele (P1019P) with increasing OR was a risk factor for PCOS.
