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Analysis of Copy Number Variations in Brain DNA from Patients with Schizophrenia and Other Psychiatric Disorders
- Source :
- Biological Psychiatry. 72:651-654
- Publication Year :
- 2012
- Publisher :
- Elsevier BV, 2012.
-
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.
- Subjects :
- Male
medicine.medical_specialty
DNA Copy Number Variations
Genotype
Single-nucleotide polymorphism
Genome-wide association study
Biology
Bioinformatics
Polymorphism, Single Nucleotide
Article
mental disorders
medicine
Humans
Genetic Predisposition to Disease
Copy-number variation
Autistic Disorder
Psychiatry
Biological Psychiatry
Mood Disorders
Brain
medicine.disease
Penetrance
Mood disorders
Schizophrenia
Major depressive disorder
Female
Genome-Wide Association Study
Diagnosis of schizophrenia
Subjects
Details
- ISSN :
- 00063223
- Volume :
- 72
- Database :
- OpenAIRE
- Journal :
- Biological Psychiatry
- Accession number :
- edsair.doi.dedup.....8242fb501977b1ebc495d22e107795a9