Myeloperoxidase and<i>CYBA</i>genetic variants in polycystic ovary syndrome

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Abstract

<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Oxidative stress plays a pivotal role in the pathogenesis of polycystic ovary syndrome (PCOS). Genetic variations in myeloperoxidase (<jats:italic>MPO</jats:italic>;<jats:italic>G‐463A</jats:italic>) and NADPH oxidase p22phox subunit (<jats:italic>CYBA</jats:italic>;<jats:italic>C242T</jats:italic>) cause inter‐individual variability in enzyme activities. Here, we investigated the associations between MPO activity and the<jats:italic>MPO G‐463A</jats:italic>and<jats:italic>CYBA C242T</jats:italic>polymorphisms in Chinese women with PCOS.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>This case‐control study included 1003 patients with PCOS and 810 controls. The<jats:italic>G‐463A</jats:italic>and<jats:italic>C242T</jats:italic>polymorphisms were detected by polymerase chain reaction and restriction analysis, and clinical, hormonal, metabolic and oxidative stress parameters and MPO activity were analysed.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The frequencies of the<jats:italic>GA + AA</jats:italic>genotype and<jats:italic>A</jats:italic>allele frequency of the<jats:italic>MPO G‐463A</jats:italic>polymorphism were significantly higher in the PCOS group than in the control group. Logistic regression analysis showed that the<jats:italic>MPO‐463A</jats:italic>allele is a risk factor for PCOS (OR = 1.261, 95% CI: 1.042‐1.526,<jats:italic>P</jats:italic> = .017). Patients with the<jats:italic>AA</jats:italic>genotype tended to have higher plasma MPO activity than those with the<jats:italic>GG</jats:italic>genotype. No statistical significance was found in the genotype and allele frequencies of the<jats:italic>CYBA C242T</jats:italic>polymorphism between the PCOS and control groups. However, we demonstrated that the coexistence of the<jats:italic>MPO A</jats:italic>allele (<jats:italic>GA + AA</jats:italic>genotypes) and the<jats:italic>CYBA CC</jats:italic>genotype was associated with an increased risk of PCOS when compared with the wild‐type<jats:italic>GG/CC</jats:italic>genotypes (OR = 1.302, 95% CI: 1.030‐1.646,<jats:italic>P</jats:italic> = .027).</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>The<jats:italic>MPO G‐463A</jats:italic>variant, but not<jats:italic>CYBA C242T</jats:italic>variant, is associated with a risk of PCOS in Chinese women.</jats:p></jats:sec>