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Systems biology dissection of PTSD and MDD across brain regions, cell types, and blood

  • PTSD Working Group of Psychiatric Genomics Consortium
  • McLean Hospital
  • Harvard University
  • Broad Institute
  • University of Texas at Austin
  • Maastricht University
  • Biogen IDEC
  • Lieber Institute for Brain Development
  • University of Miami
  • Boston University
  • VA Bedford Healthcare System
  • Department of Veterans Affairs
  • Emory University
  • University of California at San Diego
  • Johns Hopkins University

Research output: Contribution to journalArticlepeer-review

73 Scopus citations

Abstract

The molecular pathology of stress-related disorders remains elusive. Our brain multiregion, multiomic study of posttraumatic stress disorder (PTSD) and major depressive disorder (MDD) included the central nucleus of the amygdala, hippocampal dentate gyrus, and medial prefrontal cortex (mPFC). Genes and exons within the mPFC carried most disease signals replicated across two independent cohorts. Pathways pointed to immune function, neuronal and synaptic regulation, and stress hormones. Multiomic factor and gene network analyses provided the underlying genomic structure. Single nucleus RNA sequencing in dorsolateral PFC revealed dysregulated (stress-related) signals in neuronal and non-neuronal cell types. Analyses of brain-blood intersections in >50,000 UK Biobank participants were conducted along with fine-mapping of the results of PTSD and MDD genome-wide association studies to distinguish risk from disease processes. Our data suggest shared and distinct molecular pathology in both disorders and propose potential therapeutic targets and biomarkers.

Original languageEnglish
Article numbereadh3707
JournalScience
Volume384
Issue number6698
DOIs
StatePublished - May 24 2024

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