Investigation of the relationship between vitamin D status and vitamin D receptor gene single nucleotide polymorphisms with parameters of uterine fibroids

Abstract

Uterine fibroids are common tumors in women, especially during reproductive years. Although generally benign, they can cause complications such as abnormal bleeding and pain. Various factors, including genetics, hormonal influences, obesity, and lifestyle, contribute to their development. Vitamin D deficiency has emerged as a significant risk factor, with its receptors present in uterine tissues suggesting a potential role in fibroid management. This study aims to investigate the relationship between vitamin D status and single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR) gene with fibroid parameters across different populations. Methods: This research involved 100 women diagnosed with uterine fibroids and 100 healthy women as controls. Serum vitamin D levels were quantified using the ELISA method, ensuring accurate measurement of vitamin D concentrations. Genetic analysis focused on specific VDR polymorphisms: BsmI (rs1544410), ApaI (rs7975232), FokI (rs2228570), and TaqI (rs731236). Genotyping was performed using polymerase chain reaction (PCR) followed by electrophoresis to determine the presence of these polymorphisms. Statistical analyses were conducted to evaluate the association between vitamin D levels, VDR polymorphisms, and clinical parameters related to fibroids, including size and presence of symptoms. Results: The study revealed that vitamin D deficiency was significantly higher in women with fibroids compared to the control group (mean 12 ng/mL vs. 25 ng/mL, p < 0.01). Notably, the VDR polymorphism rs2228570 was associated with an increased risk of fibroids (OR = 3.5, 95% CI: 1.25–10.3, p = 0.007), particularly with the CT genotype. Conversely, the CC genotype showed a protective effect (OR = 0.39, 95% CI: 0.14–1.08, p = 0.043). Additionally, the CC genotype of rs7975232 was linked to a reduced risk of fibroids (OR = 0.30, 95% CI: 0.12–0.78, p = 0.006). Among women receiving vitamin D supplementation, a significant reduction in fibroid size was observed (mean decrease of 2.5 cm, p < 0.05), emphasizing the vitamin’s potential therapeutic role.