engleski

VDR gene polymorphisms and DNA methylation in idiopathic spontaneous preterm birth

Introduction: The deficiency of vitamin D has been associated with premature birth. The effects of vitamin D are mediated by its receptor (VDR), which is encoded by the VDR gene. Both VDR gene polymorphisms and DNA methylation play important roles during normal and pathological pregnancy. The aim of this study was to evaluate whether maternal VDR gene polymorphisms and long interspersed nucleotide elements 1 (LINE-1) DNA methylation, alone or in combination, are a risk factor for idiopathic spontaneous preterm birth (ISPTB) in Croatian and Slovenian women. Material and methods: This case-control study included 50 women who delivered spontaneously early preterm (23-336/7 weeks of gestation) and 50 control women who delivered at term. The FokI (rs2228570), ApaI (rs7975232), Bsml (rs1544410), TaqI (rs 731236), and Cdx2 (rs11568820) single nucleotide polymorphisms (SNPs) in the VDR gene were identified using the combination of polymerase chain reaction and restriction fragment length polymorphism. Quantification of LINE-1 DNA methylation was determined using the MethyLight method. Results: There was no significant difference observed in genotype and allele frequencies of VDR gene polymorphism between women with ISPTB and control women (P > 0.050). Moreover, no significant differences were found in inheritance models between groups of subjects. The values of LINE-1 DNA methylation in patients with ISPTB did not significantly differ compared to the control group (P = 0.767). Additionally, no association was observed in DNA methylation between any of the analyzed genotypes of VDR gene polymorphisms (P > 0.050). Conclusion: The results of our study indicate that VDR gene polymorphisms are not associated with the occurrence of ISPTB. In addition, based on the LINE-1 quantification, DNA methylation is not associated with ISPTB nor with VDR gene polymorphisms. Considering the number of patients enrolled, further research is needed to detect and clarify the role of DNA methylation and VDR gene polymorphisms in ISPTB.

DNA methylation ; preterm birth ; vitamin D

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