Impact of CYP19A1 Genetic Variations on Polycystic Ovary Syndrome: Findings from a Case-Control Study.

Objective: To study the association between CYP19A1 genetic variants and the risk of developing PCOS. The study explored the relationship between the candidate gene CYP19A1 and hyperandrogenism, as well as its interplay with obesity, in PCOS patients compared to healthy controls.

Design: A case-control study with Genetic association analysis by Tetra ARMS PCR and biochemical analysis.

Subjects: 204 women (113 PCOS patients and 91 healthy controls) were included in the present study.

Main outcome measures: Genotypic and allelic frequencies of CYP19A1 variants (rs2236722 and rs700519) and their impact on androgen metabolism and obesity markers.

Results: The genotypic and allelic frequency of rs2236722 showed statistically significant differences between PCOS cases and controls (p<0.002 and p<0.06, respectively). A significant association was observed under the dominant model, with an odds ratio of 0.34 (95% CI: 0.16-0.66, p = 0.002), as well as under the heterozygous model, where the odds ratio was 2.58 (95% CI: 1.34-4.97, p = 0.003). However, rs700519 did not reveal any significant association between the groups. A noticeable statistical difference was observed in the levels of total testosterone, DHEAS, PRL, LH/FSH, E2/T ratio, BMI, and WHR between the case and control groups (p<0.05). However, no variations in clinical variables were observed among genotypes within the PCOS group.

Conclusion: Our study demonstrates that the CYP19A1 rs2236722 polymorphism significantly correlates with PCOS risk, while rs700519 showed no significant association. The findings suggest that altered aromatase activity linked to rs2236722 may contribute to the hyperandrogenic phenotype observed in PCOS patients. These results enhance our understanding of the genetic basis of PCOS and may have implications for personalized treatment approaches.