In order to determine genetic loci associated with decreasing risk of uterine leiomyomata (UL), a genome-wide association study (GWAS) was performed. We analyzed a group of patients with a family history of UL and a control group consisting of patients without uterine fibroids and a family predisposition to this pathology. Six significant single nucleotide polymorphisms were selected for PCR-genotyping of a large data set of patients with UL. All investigated loci (rs3020434, rs11742635, rs124577644, rs12637801, rs2861221, and rs17677069) demonstrated the lower frequency of minor alleles within a group of women with UL, especially in a subgroup consisting of patients with UL and a familial history of leiomyomata. We also found that the minor allele frequencies of these SNPs in our control group were higher than those across the Caucasian population in all. Based on the obtained data, an evaluation of the common risk of UL was performed. Further work will pave the way to create a specific SNP-panel and allow us to estimate a genotype-based leiomyoma incidence risk. Subsequent studies of genetic variability in a group of patients with a familial predisposition to UL will allow us to make the prediction of the development and course of the disease more individualized, as well as to give our patients personalized recommendations about individual reproductive strategies.

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Uterine leiomyomas are a worrying reproductive health issue that has serious social implications. The aim of this study was to conduct a search for marker single nucleotide polymorphisms (SNPs) associated with uterine leiomyoma. To test the hypothesis about the contribution of genetic predisposition to the pathogenesis of myomas, the initial group of 100 patients with a verified diagnosis of uterine leiomyoma was divided into 2 subgroups: subgroup Ia (women with a family history of the disease) and subgroup 1b (women with no family history of the disease). The control group consisted of 30 postmenopausal patients who did not have a medical history of uterine fibroids and denied uterine fibroids in their close female relatives. DNA sequences were read using Sanger sequencing. Statistically significant differences (p < 0.05) were discovered between the analyzed groups in terms of genotype frequencies for rs12637801 and rs12457644. Also, previously unknown protective SNPs were identified whose rare alleles could predict the reduced risk of uterine leiomyomas.

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Study Objective: To assess the efficacy of methods for DNA gene typing (direct sequencing and two variants of real-time PCR) for routine analysis of large groups; to compare the prevalence of genotypes of three single nucleotide polymorphisms in groups of women with uterine leiomyoma (with a separate analysis of a group with a family history of the disease) and in controls. Study Design: comparative study. Materials and Methods. Subjects were divided into groups using the case-control principle. DNA gene typing results for two groups of patients were analysed. Also, we analysed prevalence of genotypes in study group (patients with uterine leiomyoma) and in controls (patients without a history of uterine leiomyoma and a family history of the disease). The primary method used for genotyping was direct sequencing with genotype imaging. On the second stage, we tested two different PCR-based genotyping methods. Study Results. Patients with uterine leiomyoma were subject to genotyping using three single nucleotide polymorphisms (rs3020434, rs124577644, rs12637801) in ESR1, FBN2, and KCWMB2 introns. We have identified significant differences in prevalence of genotypes between the study group and controls. Polymorphism prevalence is statistically different between patients with leiomyomas, controls and women with a family history of the disease. It is demonstrated that the use of the two variants of real-time PCR testing instead of direct sequencing speeds up results; these methods are a less expensive and less labour-intensive tool for genotyping of single nucleotide polymorphisms in large groups. Conclusion. Real-time PCR testing can be used for express and efficient analysis of single nucleotide polymorphisms associated with uterine leiomyoma. Both methods (PCR genotyping with the use of oligonucleotide probes and analysis of high-resolution melting profiles) tested in this paper make it possible to get unambiguous results in 97–99% of samples. Keywords: uterine leiomyoma, single nucleotide polymorphisms, family proneness.