Association of Estrogen Receptor Gene Variants (ESR1 and ESR2) with Polycystic Ovary Syndrome in Tunisia

The study examined the relationship between single nucleotide variants (SNVs) in estrogen receptor genes (ESR1 and ESR2) and polycystic ovary syndrome (PCOS) in 254 Tunisian women with PCOS and 170 control women. It found that certain SNVs in ESR1 (particularly rs2234693) and one in ESR2 (rs1256049) were significantly associated with PCOS, with the strongest association for the C allele of rs2234693 even after stringent statistical correction. Haplotype analysis of ESR1 revealed four haplotypes linked to PCOS, with the H1 haplotype showing the strongest association. The study also found that these genetic variants were more significantly correlated with metabolic components of PCOS, such as hyperglycemia and insulin resistance, than with hormonal profiles. The research suggests that ESR1 and ESR2 genes are important markers for PCOS in the North African population, particularly concerning metabolic features, and highlights the need for further studies to understand their role in PCOS. Ethnic variability in SNVs was also noted, with Tunisian minor allele frequencies being similar to those in Europeans for most SNVs. The study concludes that estrogen receptor genes are significant markers for PCOS, especially in terms of metabolic features, in the Tunisian population.