20.500.12556/DiRROS-28090 MTHFR gene polymorphisms and DNA methylation in idiopathic spontaneous preterm birth Background and Objectives: Preterm birth (PTB) is a complex condition with various contributing factors, including genetic and epigenetic influences such as DNA methylation. Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in DNA methylation and the remethylation of homocysteine. This study aimed to investigate the association between maternal MTHFR C677T and A1298C polymorphisms, LINE-1 DNA methylation levels, and the risk of idiopathic spontaneous preterm birth (SPTB) in Caucasian women from Croatia and Slovenia. Materials and Methods: A total of 50 women with SPTB (<34 weeks of gestation) and 50 control women were included in the study. MTHFR polymorphisms were analyzed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), and LINE-1 DNA methylation levels were quantified using the MethyLight method. Results: The study found no significant differences in MTHFR C677T and A1298C polymorphisms’ genotype or allele frequencies between women with SPTB and controls. Additionally, no statistical significance of LINE-1 DNA methylation was found between the genotypes of the MTHFR polymorphisms analyzed. Conclusions: The study suggests no conclusive association between MTHFR C677T and A1298C polymorphisms, LINE-1 DNA methylation, and SPTB in Croatian and Slovenian women. Considering prior evidence connecting MTHFR polymorphisms, hyperhomocysteinemia, and PTB, the lack of homocysteine measurements and unassessed impact of folate or vitamin B supplementation limit the conclusions. DNA methylation MTHFR methylenetetrahydrofolate reductase genetic polymorphism idiopathic spontaneous preterm birth preterm birth true false true Angleški jezik Ni določen Neznano 2026-03-10 09:10:51 2026-03-10 09:10:51 2026-03-11 03:59:09 0000-00-00 00:00:00 2024 0 0 Nasl. z nasl. zaslona; Opis vira z dne 19. 6. 2025; str. 1-10 issue 12, [article no.] 2028 Vol. 60 2024 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 618.2:575 1648-9144 10.3390/medicina60122028 239898115 RAZ_Devic_Pavlic_Sanja_2024.pdf RAZ_Devic_Pavlic_Sanja_2024.pdf 1 92B59C51280538309D940AE1A6962DAA 2587e32331abdfafdd48a82305817e972e8330ab1be9eda133faca2b0a8141d5 c9085931-1c58-11f1-acf8-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=41505 https://doi.org/10.3390/medicina60122028 0 d6f41e9f-1c58-11f1-acf8-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=41506 Univerzitetni klinični center Ljubljana 0 0 0