The relationship between single nucleotide variants of the VDR, DHCR7, CYP2R1 genes and the risk of developing polycystic ovary syndrome.

Relevance: The relationship between polycystic ovary syndrome (PCOS) and vitamin D deficiency is actively studied. Genes associated with vitamin D levels are VDR, DHCR7, CYP2R1. The study of single nucleotide variants (SNV) of vitamin D genes - VDR, DHCR7, CYP2R1 in patients with PCOS is relevant, given the diversity of vitamin D functions in the body. Objective: the study of the SNV genes DHCR7 rs12785878, VDR rs1544410 (BsmI), CYP2R1 rs10741657 depending on the anthropometric and metabolic parameters of patients with PCOS and healthy women. Materials and methods: 182 women with PCOS and 164 healthy women were examined, anthropometric measurements were taken, the levels of LH, FSH, total testosterone, progesterone, insulin, 25 OH vitamin D, SNV genes DHCR7 rs12785878, VDR rs1544410, CYP2R1 rs10741657 were studied. Genotypes were compared in equilibrium using the χ2 criterion. The results are presented as OR and 95% CI. Results: in carriage of the T allele of DHCR7 rs12785878, the risk of PCOS is increased (G/T + T/T vs G/G: OR = 2.4, 95% CI 1.37 – 4.09, p < 0.001). DHCR7 G/G rs12785878 was more common in healthy women (p < 0,001). Depending on DHCR7 rs12785878, in patients with PCOS T/T was associated with low LH levels, a higher progesterone levels, a lower glucose levels. LH median in T/T carriage 8.5 [7.6 – 11.3] mIU/L (p _{T/T – G/T} = 0,012, p _{T/T – G/G}= 0,013). Median progesterone in T/T carriers is 12.4 [8.4 – 16.0] pg/mL (p _{T/T – G/T} = 0,003, p _{T/T – G/G} = 0,004). Median blood glucose levels in T/T carriers are 5.0 [4.7 – 5.4] mmol/L (p _{T/T – G/T} = 0,041, p _{T/T – G/G} = 0,037), these facts have not been reported previously. Carriage of VDR rs1544410 A/A is associated with low vitamin D in patients with PCOS. Conclusion: It have been found that the T allele of DHCR7 increases the risk of developing PCOS by 2.4 times. The carriage of DHCR7 rs12785878 T/T in patients with PCOS is associated with a lower level of LH, a higher level of progesterone, a lower glucose levels. A/A VDR rs1544410 in patients with PCOS is associated with lower vitamin D levels.