Polymorphism of the Aromatase Enzyme Gene at the rs700519 Site and Its Relationship with Some Biochemical Variables in Women with Polycystic Ovary Syndrome

Abstract

Polycystic Ovary Syndrome (PCOS) is identified as one of the most common hormonal disturbances that can affect females in their reproductive period, having significant implications on fertility observable during the reproductive span and post-menopause (Hanan et al., 2020). This study was designed to decipher the relationship between PCOS and the polymorphism of the aromatase gene at the rs700519 locus along with certain biochemical variables. The research comprised 50 blood samples from women afflicted with PCOS and 25 samples from non-afflicted women, spanning an age range of 16 to 45 years. Additionally, the study involved exploring the polymorphisms of the aromatase gene (CYP19A1) concerning SNPs rs700519 in both afflicted and non-afflicted women. The electrophoretic analysis of the PCR product on a 1% agarose gel for the aromatase gene (CYP19A1) indicated the presence of three genetic patterns (GG, GA, AA). The allele frequency for the aromatase gene SNP CYP19A1 (rs700519) in women with and without PCOS revealed values of 0.49 and 0.54 for the G allele, and 0.51 and 0.46 for the A allele, respectively. The genetic patterns did not exhibit any significant predisposition, with an Odds Ratio (OR) of 0.818 for the mutant A allele at the CYP19A1 rs700519 locus