Cell type-specific epigenetic links to schizophrenia risk in the brain

Genome Biol. 2019 Jul 9;20(1):135. doi: 10.1186/s13059-019-1747-7.

Abstract

Background: The importance of cell type-specific epigenetic variation of non-coding regions in neuropsychiatric disorders is increasingly appreciated, yet data from disease brains are conspicuously lacking. We generate cell type-specific whole-genome methylomes (N = 95) and transcriptomes (N = 89) from neurons and oligodendrocytes obtained from brain tissue of patients with schizophrenia and matched controls.

Results: The methylomes of the two cell types are highly distinct, with the majority of differential DNA methylation occurring in non-coding regions. DNA methylation differences between cases and controls are subtle compared to cell type differences, yet robust against permuted data and validated in targeted deep-sequencing analyses. Differential DNA methylation between control and schizophrenia tends to occur in cell type differentially methylated sites, highlighting the significance of cell type-specific epigenetic dysregulation in a complex neuropsychiatric disorder.

Conclusions: Our results provide novel and comprehensive methylome and transcriptome data from distinct cell populations within patient-derived brain tissues. This data clearly demonstrate that cell type epigenetic-differentiated sites are preferentially targeted by disease-associated epigenetic dysregulation. We further show reduced cell type epigenetic distinction in schizophrenia.

Keywords: Brain cell type; DNA methylation; Epigenetics; Neurogenomics; Neuron; Oligodendrocyte; Schizophrenia; Transcriptome.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Brain / cytology
  • Brain / metabolism*
  • Case-Control Studies
  • DNA Methylation*
  • Epigenesis, Genetic*
  • Humans
  • Schizophrenia / genetics*
  • Schizophrenia / metabolism