Genetic Variations of (SOD2; Rs5746136) and (PON2; Rs705379) are Associated with the Risk Of PCOS and Influence Metabolic Profile Among the Iranian Population

Polycystic ovarian syndrome (PCOS) is one of the most prevalent disorders affecting women's metabolic, psychological, and reproductive features. This study investigated the roles of superoxide dismutase 2 (SOD2; rs5746136) and paraoxonase 2 (PON2; rs705379) gene polymorphisms on the risk of PCOS and oxidative stress and clinical indices in Iranian women. This cross-sectional study included 56 patients (female) with PCOS and 54 healthy women (control group), and single nucleotide polymorphisms (SNPs) of rs5746136 and rs705379 were genotyped. The results showed that there were no detectable variations in frequency between PCOS and control groups in SOD2 genotypes and alleles (p>0.05). Compared with controls, the frequency of rs705379-CC genotype was higher in PCOS individuals [adjusted OR (95%CI) = 2.171 (1.098-4.313), P=0.016], which showed a significant association. While the frequency of the TT genotype was higher in the reference group (OR= 0.464 (0.236-0.97), P=0.015). Patients with the A and C alleles exhibited considerably greater serum levels of luteinizing hormone (LH) and LH/FSH (follicle-stimulating hormone) than the control group. Our results revealed that the PON1 gene (C>T) polymorphism is related to the risk of PCOS. However, the SOD2 gene (G>A) polymorphism in our study population did not show any relation to PCOS. Importantly, oxidative stress parameters showed a significant relationship with PON1 rs705379-genotype.