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Meta-Analysis of DNA methylation and gut microbiome data in preterm birth reveals epigenetic and microbial biomarkers

Lingli Li1, Chunyan Wang1, Chunyan Liu1

  • 1Pediatric Internal Medicine, Hongqi Hospital Affiliated to Mudanjiang Medical University, Mudanjiang City, Heilongjiang Province, China.

Archives of Physiology and Biochemistry
|July 17, 2026
PubMed

Insights

Preterm birth biomarkers were identified by integrating gut microbiome and DNA methylation data. These findings link microbial metabolism and epigenetic regulation for early diagnostics and interventions in preterm birth.

Area of Science:

  • Epigenetics
  • Microbiome Research
  • Neonatal Health

Background:

  • Preterm birth is a leading cause of neonatal mortality globally.
  • Understanding molecular and microbiome factors is crucial for early diagnostics and interventions.
  • Biomarker identification is essential for targeted preterm birth strategies.

Purpose of the Study:

  • To identify biomarkers for preterm birth by integrating gut microbiome and DNA methylation data.
  • To explore the relationship between microbial metabolites and epigenetic modifications in preterm birth.
  • To uncover potential targets for early diagnosis and intervention.

Main Methods:

  • Integrated gut microbiome profiling and DNA methylation analysis (GSE120458).
  • Identified differentially methylated regions and altered microbial genera.
  • Performed Taxon Set Enrichment Analysis to link microbial genera with systemic diseases.

Main Results:

  • Discovered 1,609 differentially methylated regions in immune, hormonal, and neurodevelopmental pathways.
  • Identified five altered gut genera associated with systemic diseases.
  • Found 1,649 genes targeted by microbial metabolites, with 17 overlapping methylated genes indicating microbiome-epigenome interactions linked to neuroimmune and synaptic pathways.

Conclusions:

  • Hub genes identified may serve as crucial biomarkers for early preterm birth intervention.
  • The study establishes a connection between microbial metabolism and epigenetic regulation in preterm birth.
  • Results provide a foundation for developing novel diagnostic and therapeutic strategies.

Keywords:
Faecalibacterium prausnitziiMicrobiome analysisepigenetic biomarkersmaternal placentapreterm birth

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