Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders

Tianzhang Ye, Barbara K. Lipska, Ran Tao, Thomas M. Hyde, Liqin Wang, Chao Li, Kwang H. Choi, Richard E. Straub, Joel E. Kleinman, Daniel R. Weinberger

Research output: Contribution to journalArticlepeer-review

29 Scopus citations

Abstract

Background: Clinical studies have identified several regions of the genome with copy number variations (CNVs) associated with diverse neurodevelopmental behavioral disorders. Methods: We analyzed 1 million (M) single nucleotide polymorphism genotype arrays for evidence of previously reported recurrent CNVs and enriched genome-wide CNV burden in DNA from 600 brains, including 441 individuals with various psychiatric diagnoses. We explored gene expression in the dorsolateral prefrontal cortex in selected cases with CNVs and in other subjects with Illumina BeadArrays (568 subjects in total) and additionally in 66-92 subjects with quantitative real-time polymerase chain reaction. Results: The CNVs in previously reported genomic regions were identified in 4 of 193 patients with the diagnosis of schizophrenia (1q21.1, 11q25, 15q11.2, 22q11), 4 of 238 patients with mood disorders (11q25, 15q11.2, 22q11), and 1 of 10 patients with autism (2p16.3). No evidence of increased genome-wide CNV burden was observed in cases with schizophrenia or mood disorders, although the study is underpowered to observe rare events. Messenger RNA expression patterns suggested incomplete molecular penetrance of observed CNVs. Conclusions: Our data confirm in brain DNA the presence of certain recurrent CNVs in a small percentage of patients with psychiatric diagnoses.

Original languageEnglish (US)
Pages (from-to)651-654
Number of pages4
JournalBiological psychiatry
Volume72
Issue number8
DOIs
StatePublished - Oct 15 2012

Keywords

  • Autism
  • copy number variations
  • gene expression
  • major depressive disorder
  • postmortem brain
  • prefrontal cortex
  • schizophrenia

ASJC Scopus subject areas

  • Biological Psychiatry

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