Anti-M\xfcllerian hormone level is associated with vitamin D receptor polymorphisms in women with polycystic ovary syndrome

Monika Szafarowska,Małgorzata Jerzak,Monika Kniotek,Edyta Dziech,Agnieszka Segiet - Święcicka,Artur Rogowski,Beata Kaleta

doi:10.1007/s10815-019-01472-3

Abstract

ObjectiveOur 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 designSeventy-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.ResultsAnalysis 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.ConclusionIt 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.

Highlights

Monika Szafarowska and Edyta Dziech contributed to this work.Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age and the most common cause of infertility due to ovulation problems [1]
We observed that vitamin D levels were significantly lower in the PCOS group compared with the control group (14.2 ng/mL vs. 19.60 ng/mL respectively; p = 0.008)
The genotype distribution for the vitamin D receptor (VDR), anti-Müllerian hormone (AMH), and AMHR2 polymorphisms among PCOS patients and controls was in Hardy-Weinberg equilibrium (p > 0.05)

Summary

Results

AMH levels within the study group (PCOS) were statistically significantly higher than those in the control group (8.4 ng/mL vs 4.3 ng/mL, respectively; p = 0.001). The analysis of demographic and clinical factors including age, BMI, fasting glucose level, blood pressure, and lipid profiles revealed no statistically significant associations in the study group (PCOS) between these factors and the determined levels of AMH and vitamin D (p > 0.05). The analysis revealed a statistically significant correlation between the presence of Fok (rs2228570) and Apa (rs7975232) polymorphisms and AMH levels in PCOS women (p < 0.05) (Fig. 1 and Fig. 2). The analysis revealed that the presence of the wild-type (CC and AA, respectively) polymorphic variant was associated with lower AMH values. We found a statistically significant correlation between the presence of Apa (rs7975232) polymorphism and 25(OH)D levels in PCOS women (p < 0.05).

Introduction

Methods

Discussion