MOLECULAR GENETIC DETERMINANTS OF ADENOMYOSIS

Relevance: Adenomyosis is a common disease of the female reproductive system that affects 15–45% of women. One important aspect of the pathogenesis of adenomyosis is the disruption of apoptosis and immune processes, which are caused by an imbalance of growth factors (VEGF, EGF, TGFβ1, IGF1, and FGFR2). Polymorphisms in growth factor genes may influence their expression and therefore play a role in the pathophysiology of adenomyosis. Objective: To evaluate the involvement of polymorphic loci in growth factor genes in the development of adenomyosis. Materials and methods: This study included 102 patients with adenomyosis and 778 control women. Five polymorphic growth factor gene loci were selected for the study: rs4444903 EGF c.-382A>G and rs6214 IGF1 c.*2716G>A, rs2981582 FGFR2 c.109+906T>C, rs833061 VEGF c.-958C>T, rs1800469 TGFb1 c.-1347 T>S. The analysis was performed by real-time PCR. The APSampler program was used to assess inter-locus interactions (https://sourceforge.net/projects/apsampler/). Results: The study results showed that the genotype GG IGF1 rs6214 (OR=2.64, p=0.01) should be considered a risk factor for the development of adenomyosis, as well as the combination of polymorphic variants G rs6214 IGF1, C rs1800469 TGFb1, A rs4444903 EGF, and T rs833061 VEGF (OR=1.88, pperm=0.0021), and the alleles G rs6214 IGF1, C rs1800469 TGFb1, T rs833061 VEGF, and C rs2981582 FGFR2 (OR=1.71, pperm=0.003). Conclusion: The gene combinations rs4444903 EGF, rs6214 IGF1, rs2981582 FGFR2, rs833061 VEGF, and rs1800469 TGFb1 are associated with the development of adenomyosis. These results indicate the importance of interlocus interactions between growth factor genes in the development of adenomyosis. In the future, the obtained data could be used in practical medicine. © A group of authors, 2024.