engleski

Gene polymorphisms of DNA methyltransferases in women with spontaneous preterm birth

Aim: Preterm birth (PTB) is a birth that occurs before the 37th week of gestation and is the leading cause of neonatal mortality and morbidity. DNA methyltransferases (DNMTs) establish DNA methylation patterns at specific genome regions and contribute to gene regulation. Previous studies have reported on an association between spontaneous PTB (SPTB ; birth with intact membranes) and epigenetic changes (i.e. methylation levels) in maternal blood, placenta and cord blood. Additionally, certain DNMT3B gene polymorphisms in women were found to be associated with an increased risk for SPTB. The aim of this study was to evaluate the potential association between SPTB and DNMT1, 3A, 3B and 3L gene polymorphisms in European Caucasian women, and their contribution to clinical characteristics of women with SPTB and their new-borns. Patients and methods: A total of 113 women with SPTB and 119 women with term delivery were included in a case-control study. Genotyping of DNMT1 rs2228611 A/G, DNMT3A rs1550117 A/G, DNMT3B rs1569686 G/T and DNMT3L rs2070565 A/G single nucleotide polymorphisms was performed using polymerase chain reaction and restriction fragment length polymorphism methods. Results: No statistically significant differences were found in the distribution of genotype or allele frequencies of tested polymorphisms between patients and controls. However, the DNMT3B rs1569686 minor allele (T) was more frequent in women with familial SPTB than women with non-familial SPTB (Χ2=7.65, P=0.006), contributing to a 4.02 increased odds for familial SPTB under the dominant genetic model (TG+TTvsGG) (95% CI=1.56-10.40, P=0.004). None of the other polymorphisms contributed to the clinical characteristics of women with SPTB and their new-borns (family history of SPTB, maternal and gestational age at delivery, fetal birth weight). Conclusion: The DNMT3B rs1569686 T allele in European Caucasian women might be associated with a positive family history of SPTB.

DNA methyltransferase ; preterm birth ; gene polymorphism

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