Genetic variants of sex hormone-binding globulin and hormonal profile in patients with genital endometriosis
Background: Endometriosis is a chronic inflammatory, dyshormonal disease. Genetic factors play an important role in its development. Sex hormone imbalance is important for the occurrence, growth and spread of endometrioid heterotopias. The aim of the study:To investigate the association of gene polymorphism associated with the level of sex hormone-binding globulin (SHBG) with the hormonal profile of patients with genital endometriosis. Materials and methods: A study was conducted on a sample of 103 women with genital endometriosis. Each patient underwent an analysis of sex hormone levels (dehydroepiandrosterone (DHEA), estradiol, follicle-stimulating hormone (FSH), luteinizing hormone (LH), progesterone, prolactin and testosterone). Genotyping of nine single-nucleotide polymorphisms (SNPs) significant for SHBG levels according to genome-wide association study (GWAS) data was performed: rs12150660 of the SHBG gene, rs10454142 of the PPP1R21 gene, rs780093 of the GCKR gene, rs17496332 of the PRMT6 gene, rs3779195 of the BAIAP2L1 gene, rs440837 of the ZBTB10 gene, rs7910927 of the JMJD1C gene, rs4149056 of the SLCO1B1 gene, rs8023580 of the NR2F2 gene. Using the gPLINK program, the association of the above loci with the level of sex hormones in women with genital endometriosis was assessed using the linear regression method. Results: Genetic variants associated with SHBG levels that determine the hormonal profile of patients with endometriosis have been identified. The polymorphic loci associated with the content of dehydroepiandrosterone and testosterone are rs440837 ZBTB10 (allele G, β=-0.266 - -0.334, pperm≤0.050 and β=-0.322 - -0.215, pperm ≤0.050, respectively), estradiol – rs3779195 BAIAP2L1 (allele A, β=-0.282 - -0.318, pperm≤0.050) and rs440837 ZBTB10 (allele G, β=-0.264, pperm=0.048), progesterone – rs780093 GCKR (allele T, β=-0.380 - -0.269, pperm≤0.050), rs10454142 PPP1R21 (allele C, β=0.568, pperm=0.049), rs8023580 NR2F2 (allele C, β=-0.289, pperm=0.050) and rs12150660 SHBG (allele T, β=-1.071, pperm=0.028). Conclusion: Associations of gene polymorphism associated with SHBG levels according to GWAS data with the level of sex hormones in patients with genital endometriosis have been established
Ponomareva TA. Genetic variants of sex hormone-binding globulin and hormonal profile in patients with genital endometriosis. Research Results in Biomedicine. 2025;11(1):75-90. Russian. DOI:10.18413/2658-6533-2025-11-1-0-4
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Obstetrics and Gynecology. 2024;(7):12-20 Russian. DOI: https://dx.doi.org/10.18565/aig.2024.110