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Association between placental DNA methylation and fetal congenital heart disease

Jingjing Liu1,2, Yuduo Wu1,2, Hairui Sun1,2

  • 1Echocardiography Medical Center, Beijing Anzhen Hospital, Capital Medical University, No. 2, Anzhen Road, Chaoyang District, Beijing, 100029, China.

Molecular Genetics and Genomics : MGG
|November 17, 2022
PubMed

Insights

Placental DNA methylation patterns are associated with congenital heart disease (CHD) in fetuses. This finding suggests placental methylation could serve as a potential biomarker for early CHD detection.

Area of Science:

  • Epigenetics
  • Developmental Biology
  • Perinatology

Background:

  • Congenital heart disease (CHD) presents a significant global health challenge, with early diagnosis remaining difficult.
  • Emerging research suggests placental methylation may act as a predictor for CHD, necessitating further investigation.

Purpose of the Study:

  • To investigate the association between prenatal placental DNA methylation and congenital heart disease (CHD).

Main Methods:

  • Placental tissues from fetuses with isolated, non-syndromic CHD and unaffected controls were analyzed.
  • The Illumina Infinium Human Methylation 850K BeadChip assay identified differential methylation sites (DMSs) and regions (DMRs).
  • Gene function was assessed using KEGG and Gene Ontology (GO) enrichment analyses.

Main Results:

  • Over 9,600 differential methylation genes and 26,200 DMSs were identified between CHD cases and controls.
  • Enrichment analyses linked DMSs to crucial heart development and disease pathways.
  • Ten DMRs, including those involving TLL1, CRABP1, FDFT1, and PCK2, were identified, with gene function loss correlating to observed phenotypes.

Conclusions:

  • Prenatal placental DNA methylation levels are closely associated with fetal congenital heart disease.
  • Placental methylation patterns may offer a novel avenue for the early prediction of CHD.

Keywords:
Congenital heart diseaseDifferential methylationMethylationPlacenta

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