Placental methylome analysis from a prospective autism study

Diane I. Schroeder, Rebecca Jean Schmidt, Florence K. Crary-Dooley, Cheryl K. Walker, Sally J Ozonoff, Daniel J Tancredi, Irva Hertz-Picciotto, Janine M LaSalle

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Background: Autism spectrum disorders (ASD) are increasingly prevalent neurodevelopmental disorders that are behaviorally diagnosed in early childhood. Most ASD cases likely arise from a complex mixture of genetic and environmental factors, an interface where the epigenetic marks of DNA methylation may be useful as risk biomarkers. The placenta is a potentially useful surrogate tissue characterized by a methylation pattern of partially methylated domains (PMDs) and highly methylated domains (HMDs) reflective of methylation patterns observed in the early embryo. Methods: In this study, we investigated human term placentas from the MARBLES (Markers of Autism Risk in Babies: Learning Early Signs) prospective study by whole genome bisulfite sequencing. We also examined the utility of PMD/HMDs in detecting methylation differences consistent with ASD diagnosis at age three. Results: We found that while human placental methylomes have highly reproducible PMD and HMD locations, there is a greater variation between individuals in methylation levels over PMDs than HMDs due to both sampling and individual variability. In a comparison of methylation differences in placental samples from 24 ASD and 23 typically developing (TD) children, a HMD containing a putative fetal brain enhancer near DLL1 was found to reach genome-wide significance and was validated for significantly higher methylation in ASD by pyrosequencing. Conclusions: These results suggest that the placenta could be an informative surrogate tissue for predictive ASD biomarkers in high-risk families.

Original languageEnglish (US)
Article number51
JournalMolecular Autism
Issue number1
StatePublished - Dec 15 2016


  • Biomarkers
  • DNA methylation
  • Epigenetics
  • Genomics
  • Methylome
  • Placenta

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Neuroscience
  • Developmental Biology
  • Psychiatry and Mental health


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