The relationship between the genetic determinants of SHBG and the hormonal profile of patients with uterine fibroids
Background: Uterine fibroids are benign hormone-dependent tumors that affect the muscle layer of the uterus and are common in women of reproductive age. Genetic factors are important in the development of this neoplasm. Candidate genes associated with the level of sex hormone binding globulin (SHBG) may be involved in the pathogenetics of uterine fibroids. The aim of the study: To evaluate the relationship between polymorphic gene variants associated with SHBG levels and the hormonal status of patients with uterine fibroids. Materials and methods: The hormonal profile of the 83 patients with uterine fibroids included in the study group was examined. This included the measurement of serum concentrations of follicle-stimulating hormone (FSH), luteinising hormone (LH), oestradiol, testosterone, prolactin and progesterone. Genotyping of nine single nucleotide polymorphisms (SNPs) associated with sex hormone-binding globulin (SHBG) levels was also performed. The gPLINK software was used to search for associations of SNPs associated with the level of SHBG with the level of sex hormones in patients with uterine fibroids (linear regression method). 4 genetic models (allelic/additive/dominant/recessive) were tested; transformed values of the concentrations of sex hormones in the blood serum were included in the calculations. Results: Three molecular genetic markers are associated with estradiol levels: rs3779195 BAIAP2L1 [T/A] (7chr.) (pperm=0.020 – 0.048; β=-0.372 – -0.394), rs7910927 JMJD1C [G/T] (10chr.) (pperm=0.027 – 0.048; β=-0.228 – -0.379), rs10454142 PPP1R21 [T/C] (2chr.) (pperm=0.050; β=0.318), luteinizing hormone – rs4149056 SLCO1B1 [T/C] (12chr.) (pperm=0.043 – 0.048; β=0.361 – 0.369), and with a prolactin concentration (pperm=0.021; β=0.968), progesterone (pperm=0.050; β=-1.276,) and testosterone (pperm=0.050; β=-0.744) in the blood serum of patients with uterine fibroids, the polymorphic locus rs8023580 NR2F2 [T/C] (15chr.) is associated. Conclusion: The involvement of SHBG candidate genes in the hormonal profile of patients with uterine fibroids was established.
Ponomarenko MS. The relationship between the genetic determinants of SHBG and the
hormonal profile of patients with uterine fibroids. Research Results in Biomedicine. 2025;11(4):628-
642. Russian. DOI: 10.18413/2658-6533-2025-11-4-0-3
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