Evaluating the impact of gene polymorphism on polycystic ovary syndrome: a comprehensive meta-analysis and power assessment.

OBJECTIVE

Polycystic ovary syndrome (PCOS) is prevalent among reproductive-aged women and is categorized by hormonal imbalances, irregular menstrual cycles, and challenges with fertility. PCOS affects approximately 3.6% of women globally, with prevalence varying by region. The luteinizing hormone/choriogonadotropin receptor () gene, which encodes the , has been implicated in PCOS pathophysiology. This study investigated the association between the gene polymorphism rs2293275 and PCOS through a meta-analysis.

MATERIAL AND METHODS

An extensive literature review was carried out using Embase, PubMed, and Google Scholar databases to identify research studies exploring the association between gene variants and PCOS. The review was conducted based on the PRISMA checklist. Eligible case-control studies from 2016 to 2024 were chosen based on predefined criteria. Quantitative data analysis was performed using MetaGenyo software, employing a significance threshold of p<0.05. Odds ratios (OR) and confidence intervals (CI) were calculated to evaluate the relationships. G*Power 3.1 software was employed for statistical power analysis to assess the study's strength. The meta-analysis explored the link between gene variant rs2293275 and PCOS across diverse ethnic groups and genetic models.

RESULTS

Analyzing data from 10 studies involving 1,431 PCOS cases and 1,317 controls, the findings revealed no significant associations in most genetic models: allele (OR: 0.89, 95% CI: 0.54-1.49), dominant (OR: 0.74, 95% CI: 0.47-1.18), recessive (OR: 0.80, 95% CI: 0.41-1.57), and over-dominant (OR: 1.13, 95% CI: 0.69-1.85). Subgroup analyses by ethnicity (Arabs, Asians, Caucasians) consistently showed no significant correlations, except a protective effect in Caucasians (OR: 0.57, 95% CI: 0.34-0.95) in the AA vs. aa comparison. Sensitivity analyses confirmed robustness, and there was no indication of publication bias. Power analysis validated adequate sample sizes, and protein-protein interaction networks underscored biological relevance.

CONCLUSION

The meta-analysis concluded that no significant connection was observed between the gene variant rs2293275 and the risk of PCOS among different populations. This suggests a complexity in PCOS etiology and indicating that may not be a significant genetic marker for PCOS. Future research should explore other genetic and environmental factors contributing to PCOS, emphasizing the importance of genetic and ethnic variability in such studies.