Genotypic and metabolic impact of the SOD1 I>D polymorphism in polycystic ovary syndrome

Abstract

This study aimed to investigate the association between the SOD1 gene I>D polymorphism, a key component of the antioxidant defense system, and polycystic ovary syndrome (PCOS), as well as to evaluate the potential effects of this genetic variation on genotypic distribution and metabolic parameters. A total of 100 PCOS patients and 135 healthy controls were included, and genomic DNA extracted from peripheral blood was analyzed for the SOD1 I>D polymorphism using conventional PCR, while clinical and biochemical parameters such as body mass index (BMI), insulin levels, HOMA-IR, FSH, LH, and other hormone levels were assessed. The ID genotype was found to be less frequent in the PCOS group compared to controls, with borderline statistical significance (p = 0.050; OR = 0.57), and was significantly less common in PCOS patients with a positive family history (p = 0.013), suggesting a potential protective effect, while correlations were observed between the ID genotype and markers of insulin resistance, though no significant differences were detected in allele frequencies. These findings indicate that the SOD1 gene I>D polymorphism may influence both susceptibility and metabolic characteristics of PCOS, supporting the role of oxidative stress in its pathogenesis and emphasizing the need for further functional and large-scale studies to confirm these associations.

Keywords: Genetic susceptibility; I>D polymorphism; Oxidative stress; PCOS; SOD1 gene.