Archival Report| Volume 72, ISSUE 8, P651-654, October 15, 2012

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Analysis of Copy Number Variations in Brain DNA from Patients with Schizophrenia and Other Psychiatric Disorders


      Clinical studies have identified several regions of the genome with copy number variations (CNVs) associated with diverse neurodevelopmental behavioral disorders.


      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.


      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.


      Our data confirm in brain DNA the presence of certain recurrent CNVs in a small percentage of patients with psychiatric diagnoses.

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      Linked Article

      • Brain Copy Number Variants and Neuropsychiatric Traits
        Biological PsychiatryVol. 72Issue 8
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          In this issue of Biological Psychiatry, genomic analysis of patients with neuropsychiatric disease reveals the presence of rare copy number variants (CNVs) in about 2% of the approximately 400 brains examined (1). CNVs represent deviations from the normal diploid state (n = 2) at a given position or locus in the human genome because of a deletion or duplication at that locus. The CNVs identified have been associated previously with psychiatric illness in large-scale, case-control studies that utilized genomic DNA isolated from blood lymphocytes; however, such CNV have not been directly observed in brains of individuals with neuropsychiatric illness.
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