H6PD Gene Polymorphisms (R453Q and D151A) and Polycystic Ovary Syndrome: A Case-Control Study in A Population of Iranian Kurdish Women

Abstract

Background: Polycystic ovary syndrome (PCOS) is known as the most common endocrine and metabolic disorder inthe reproductive-age women. Due to the effects of PCOS on the physical and mental health, the investigation of the factorsaffecting the development of PCOS is crucial. Hexose-6-phosphate dehydrogenase (H6PD) is a microsomal enzymethat catalyzes the first two reactions of the oxidative chain of the pentose phosphate pathway. The present study examinedthe 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 participatedin our study. The PCOS patients were selected based on the Rotterdam diagnostic criteria. The association of H6PDgene polymorphisms, D151A and R453Q, with the development of PCOS were investigated. The polymerase chainreaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping. Statistical analysiswas 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 significantdifferences 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.

Keywords

• polycystic ovary syndrome
• polymerase chain reaction
• polymorphism