POLYMORPHISMS OF THE WNT4 (RS7521902, RS16826658), GREB1 (RS13394619), FN1 (RS1250248), IL1A (RS6542095), AND VEZT (RS10859871) GENES AND ESTROGEN METABOLISM PARAMETERS (16α-OH-E1 AND 2-OH-E1) IN THE PATHOGENESIS OF ENDOMETRIOSIS (LITERATURE REVIEW)

Endometriosis is a chronic estrogen-dependent inflammatory disease with a significant hereditary component; twin studies estimate its heritability at approximately 50% [1, 8]. Genome-wide association studies have identified dozens of risk loci, most of which are located in or near genes involved in hormonal regulation, cell adhesion, inflammation, and tissue remodeling [1, 2, 11]. The polymorphisms investigated in this review represent several interconnected pathways involved in the pathogenesis of endometriosis.

General considerations. To systematize the available literature, predominantly published during 2021–2026, on the role of polymorphisms in the WNT4 (rs7521902, rs16826658), GREB1 (rs13394619), FN1 (rs1250248), IL1A (rs6542095), and VEZT (rs10859871) genes, as well as estrogen metabolism parameters (16α-OH-E1 and 2-OH-E1), in the pathogenesis of endometriosis. A separate objective of this review is to assess the reproducibility of these markers across different populations and to determine whether evidence exists regarding their combined analysis.

Conclusions. The studied polymorphisms represent different but interconnected pathogenic pathways, and their potential diagnostic and prognostic significance may therefore be more appropriately evaluated as part of a comprehensive panel rather than individually.