DOI: 10.18413/2658-6533-2023-9-1-0-1

Genetic determinants of sex hormone levels in endometriosis patients

Background: Endometriosis is a chronic hormone-dependent inflammatory disease determined by the presence of foci of the endometrial tissue outside the uterine cavity. Genetic factors occupy a leading position in the etiopathogenesis of this disease. With endometriosis, there is a pronounced hormonal imbalance in the sex hormones both in the lesion and in the body of the sick woman as a whole. The aim of the study:To study the associations of polymorphism of sex hormone genes with the hormonal profile of patients with endometriosis. Materials and methods: The study group included 103 patients with endometriosis, in whom the levels of sex hormones (follicle-stimulating hormone, luteinizing hormone, prolactin, estradiol, progesterone, testosterone and dehydroepiandrosterone) were studied. The genotyping of 9 single nucleotide polymorphisms (SNP) of GWAS-significant sex hormone genes was carried out (rs148982377 ZNF789, rs34670419 ZKSCAN5, rs11031002 and rs11031005 FSHB, rs112295236 SLC22A10, rs117585797 ANO2, rs117145500 CHD9, rs727428 SHBG, rs1641549 TP53). The associations of SNPs with the level of sex hormones in patients with endometriosis were investigated by linear regression. Results: In patients with endometriosis, the serum estradiol level is associated with polymorphic loci rs148982377 ZNF789 (β=-0.488 - -0.445, p_perm≤0.050) and rs34670419 ZKSCAN5 (β=-0.544 - -0.449, p_perm≤0.050), luteinizing hormone – rs117585797 ANO2 (β= 0.618 - 0.709, p_perm≤0.050), progesterone – rs117145500 CHD9 (β=0.365 - 0.429, p_perm<0.050), prolactin – rs1641549 TP53 (β=-0.306 - -0.218, p_perm<0.050), testosterone – rs148982377 ZNF789 and rs34670419 ZKSCAN5 (β=0.492, p_perm=0.050). Conclusion: Associations of candidate gene polymorphism with the level of sex hormones in patients with endometriosis have been established

Keywords: endometriosis, sex hormones, polymorphism, associations.

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Golovchenko IO. Genetic determinants of sex hormone levels in endometriosis patients.
Research Results in Biomedicine. 2023;9(1):5-21. Russian. DOI: 10.18413/2658-6533-2023-9-1-0-1

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