MTHFR Gene Polymorphisms and DNA Methylation in Idiopathic Spontaneous Preterm Birth

Area of Science:

• Genetics and Epigenetics
• Reproductive Health

Background:

• Preterm birth (PTB) is a complex condition influenced by genetic and epigenetic factors.
• DNA methylation and methylenetetrahydrofolate reductase (MTHFR) gene are critical in biological pathways relevant to PTB.
• Investigating MTHFR polymorphisms and DNA methylation may offer insights into PTB etiology.

Purpose of the Study:

• To examine the association between maternal MTHFR C677T and A1298C polymorphisms, LINE-1 DNA methylation levels, and idiopathic spontaneous preterm birth (SPTB) risk.
• To assess these factors in Caucasian women from Croatia and Slovenia.

Main Methods:

• Case-control study involving 50 women with SPTB and 50 controls.
• MTHFR polymorphisms analyzed via polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP).
• LINE-1 DNA methylation quantified using the MethyLight method.

Main Results:

• No significant differences in MTHFR C677T and A1298C genotype or allele frequencies were observed between SPTB and control groups.
• LINE-1 DNA methylation levels did not show statistical significance across different MTHFR genotypes.
• No conclusive association was found between the studied genetic and epigenetic factors and SPTB.

Conclusions:

• The study did not establish a definitive link between MTHFR polymorphisms, LINE-1 DNA methylation, and SPTB in the studied population.
• Limitations include the absence of homocysteine measurements and unassessed effects of folate/vitamin B supplementation.
• Further research is warranted to fully elucidate the role of MTHFR, methylation, and related factors in preterm birth.