Associations of candidate genes with the level of sex hormones in endometriosis

Introduction. Endometriosis is a chronic hormone-dependent inflammatory disease determined by the presence of foci of endometrial tissue outside the uterine cavity. Genetic factors occupy a leading position in the etiopathogenesis of this disease. 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, who were examined for levels of sex hormones (follicle-stimulating hormone, luteinizing hormone, prolactin, estradiol, progesterone, testosterone and dehydroepiandrosterone). The genotyping of 9 single nucleotide polymorphisms (SNP) of GWAS-significant sex hormone genes was carried out. The associations of SNPs with the level of sex hormones in patients with endometriosis were investigated by linear regression. Results: among 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.