DRD2 co-expression network and a related polygenic index predict imaging, behavioral and clinical phenotypes linked to schizophrenia

Transl Psychiatry. 2017 Jan 17;7(1):e1006. doi: 10.1038/tp.2016.253.

Abstract

Genetic risk for schizophrenia (SCZ) is determined by many genetic loci whose compound biological effects are difficult to determine. We hypothesized that co-expression pathways of SCZ risk genes are associated with system-level brain function and clinical phenotypes of SCZ. We examined genetic variants related to the dopamine D2 receptor gene DRD2 co-expression pathway and associated them with working memory (WM) behavior, the related brain activity and treatment response. Using two independent post-mortem prefrontal messenger RNA (mRNA) data sets (total N=249), we identified a DRD2 co-expression pathway enriched for SCZ risk genes. Next, we identified non-coding single-nucleotide polymorphisms (SNPs) associated with co-expression of this pathway. These SNPs were associated with regulatory genetic loci in the dorsolateral prefrontal cortex (P<0.05). We summarized their compound effect on co-expression into a Polygenic Co-expression Index (PCI), which predicted DRD2 pathway co-expression in both mRNA data sets (all P<0.05). We associated the PCI with brain activity during WM performance in two independent samples of healthy individuals (total N=368) and 29 patients with SCZ who performed the n-back task. Greater predicted DRD2 pathway prefrontal co-expression was associated with greater prefrontal activity and longer WM reaction times (all corrected P<0.05), thus indicating inefficient WM processing. Blind prediction of treatment response to antipsychotics in two independent samples of patients with SCZ suggested better clinical course of patientswith greater PCI (total N=87; P<0.05). The findings on this DRD2 co-expression pathway are a proof of concept that gene co-expression can parse SCZ risk genes into biological pathways associated with intermediate phenotypes as well as with clinically meaningful information.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Antipsychotic Agents / therapeutic use
  • Autopsy
  • Brain / diagnostic imaging
  • Brain / metabolism
  • Brain / physiopathology
  • Child
  • Child, Preschool
  • Female
  • Functional Neuroimaging
  • Gene Regulatory Networks
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Memory, Short-Term*
  • Middle Aged
  • Multifactorial Inheritance
  • N-Acetylgalactosaminyltransferases / genetics
  • Pharmacogenomic Testing
  • Polymorphism, Single Nucleotide
  • Polypeptide N-acetylgalactosaminyltransferase
  • Prefrontal Cortex / diagnostic imaging
  • Prefrontal Cortex / metabolism*
  • Prefrontal Cortex / physiopathology
  • RNA, Messenger / metabolism*
  • Receptors, Dopamine D2 / genetics*
  • Repressor Proteins / genetics
  • Schizophrenia / diagnostic imaging
  • Schizophrenia / drug therapy
  • Schizophrenia / genetics*
  • Schizophrenia / physiopathology
  • Transcriptome
  • Young Adult

Substances

  • Antipsychotic Agents
  • DRD2 protein, human
  • GATAD2A protein, human
  • RNA, Messenger
  • Receptors, Dopamine D2
  • Repressor Proteins
  • N-Acetylgalactosaminyltransferases