Objectives. Endometriosis is supported by hormonal, immunological, and environmental factors. No specific marker for endometriosis has yet been identified. ESR2 and CYP19A1 genes play a major role in the hormonal control of endometriosis women, the development of which largely depends on steroid hormones. Aim. An analysis of ESR2 and CYP19A1 allele-specific gene expressions in the context of the risk for endometriosis occurrence. Methods. The study material included paraffin-embedded tissue specimens, collected from patients () with endometriosis. Blood samples from age-matched, endometriosis-free women () served as a control. the RT-PCR technique was performed to observe the expression of ESR2 and CYP19A1 genes. Moreover, Sanger’s sequencing method was applied for polymorphism analysis. Results. A set of 4 single-nucleotide polymorphisms (SNPs) was determined; all of them most significantly associated with endometriosis: rs4986938 (G>A)(chromosome 14), rs928554 (A>G) (chromosome 14), rs10046 (C>T) (chromosome 15), and rs4646 (C>A) (chromosome 15). There were no differences in the distribution of genotypes and alleles in the studied groups, taking into account ESR2 and CYP19A1 gene expressions. Conclusion. The ESR2 and CYP19A1 polymorphisms may not be correlated with endometriosis susceptibility. Further analysis is needed to specify the role of these polymorphisms in the pathogenesis of endometriosis.

中文翻译：

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ESR2和CYP19A1基因3UTR区多态性及其对子宫内膜异位症等位基因特异性基因表达的影响

目标。子宫内膜异位症由激素，免疫和环境因素支持。尚未发现子宫内膜异位的特异性标志物。ESR2和CYP19A1基因在子宫内膜异位症妇女的激素控制中起主要作用，其发展很大程度上取决于类固醇激素。目的。的分析ESR2和CYP19A1在子宫内膜异位症的发生的风险的情况下等位基因特异性基因表达。方法。研究材料包括从患者身上收集的石蜡包埋的组织标本（）子宫内膜异位症。年龄匹配的无子宫内膜异位症妇女的血液样本（）作为对照。采用RT-PCR技术观察ESR2和CYP19A1基因的表达。此外，桑格的测序方法被用于多态性分析。结果。确定了一组4个单核苷酸多态性（SNP）；它们均与子宫内膜异位症最相关：rs4986938（G> A）（染色体14），rs928554（A> G）（染色体14），rs10046（C> T）（染色体15）和rs4646（C> A）（ 15号染色体）。考虑到ESR2和CYP19A1基因表达，研究组的基因型和等位基因分布没有差异。结论。该ESR2和CYP19A1多态性可能与子宫内膜异位易感性无关。需要进一步的分析以说明这些多态性在子宫内膜异位症发病机理中的作用。