engleski

MTHFR gene polymorphisms and DNA methylation in idiopathic spontaneous preterm birth

Aim: Methylenetetrahydrofolate reductase (MTHFR) is an enzyme important for DNA methylation and remethylation of homocysteine, a toxic amino acid that can lead to the damage of blood vessels. Both MTHFR and DNA methylation are associated with various pathological conditions and have been shown to have an essential role during normal and pathological pregnancy. The main objective of this study was to determine whether maternal MTHFR C677T and A1298C 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. Patients 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 MTHFR C677T and A1298C gene polymorphisms were identified using the combination of polymerase chain reaction and restriction fragment length polymorphism. Quantification of LINE-1 DNA methylation was determined using MethyLight method. Results: The differences in genotype and allele frequencies of MTHFR C677T and A1298C polymorphisms between women with ISPTB and control women were not statistically significant (P > 0.050). Additionally, no significant differences were demonstrated in inheritance models between groups of subjects. Moreover, values of LINE-1 DNA methylation in patients with ISPTB did not significantly differ compared to control group (P = 0.767). There was no statistically significant difference in DNA methylation between any of the analyzed genotypes of MTHFR polymorphisms (P > 0.050). Conclusion: The obtained results indicate that examined MTHFR polymorphisms are not a predisposing factor for ISPTB in Croatian and Slovenian women. Based on LINE-1 DNA methylation quantification, there was no conclusive association between DNA methylation and ISPTB nor DNA methylation and MTHFR gene polymorphisms. Additional studies are needed to further clarify the role of DNA methylation and MTHFR gene polymorphisms in ISPTB.

DNA methylation ; genetic polymorphism ; idiopathic spontaneous preterm birth ; MTHFR

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