Objective: Our study aimed to investigate the relationship between polymorphisms (Apa1, Bsm1, Fok1, and Cdx2) in the VDR gene as well as AMH and AMHR2 genes and their influence on AMH and 25(OH)D levels in PCOS women.
Study design: Seventy-five patients with PCOS and 23 control women were included. Serum AMH and 25(OH)D levels in patients and controls were measured by enzyme-linked immunosorbent assay (ELISA). Polymorphisms in VDR gene Fok1 C/T (rs2228587), Bsm1 A/G (rs1544410), Apa1 A/C (rs7975232), and Cdx2 A/G (rs11568820) polymorphisms as well as AMH G/T (rs10407022) and AMHR2 A/G (rs2002555) were analyzed using real-time PCR.
Results: Analysis of the VDR Cdx2 polymorphism showed a significantly higher frequency of the homozygous GG (mutant) genotype in the PCOS group as compared with the control group (p < 0.05). The analysis revealed a statistically significant correlation between the presence of FokI and ApaI polymorphisms and AMH levels in PCOS women (p < 0.05). The presence of mutant genotypes (CT, TT) in the Fok1 and (CA, CC) in the Apa1 polymorphisms were associated with higher AMH level in PCOS women (p < 0.05). No statistically significant correlations between AMH and AMHR2 polymorphisms and AMH level were found. Moreover, there was no correlation between AMH and 25(OH)D levels in the PCOS or in the control group.
Conclusion: It seems that the elevated AMH level is associated with VDR Fokl and Apal polymorphisms, but not with 25(OH)D levels in PCOS women. Further research is needed to determine the role of VDR polymorphism in AMH level in PCOS.
Keywords: AMH; PCOS; VDR polymorphism; Vitamin D.