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Updated: May 15, 2026
09:16
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Mosaic copy number variation in schizophrenia.
Douglas M Ruderfer1, Kim Chambert, Jennifer Moran
1Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.
European Journal of Human Genetics : EJHG
|January 17, 2013
Summary
Chromosomal anomalies occur at low frequencies in both schizophrenia patients and controls. Researchers identified four large chromosomal alterations in individuals with schizophrenia, including trisomy 8 and chromosome 7q deletion.
Area of Science:
- Genetics
- Human Genomics
- Neuroscience
Background:
- Somatic structural genomic changes are increasingly reported in humans.
- The role of these genomic alterations in disease pathogenesis remains largely unknown.
- Investigating chromosomal anomalies in schizophrenia is crucial for understanding disease mechanisms.
Purpose of the Study:
- To investigate the frequency and nature of chromosomal anomalies in individuals with schizophrenia.
- To determine if chromosomal alterations are more prevalent in schizophrenia patients compared to healthy controls.
- To identify specific large chromosomal anomalies associated with schizophrenia.
Main Methods:
- Utilized single-nucleotide polymorphism (SNP) genotyping arrays from the International Schizophrenia Consortium (n=3518 schizophrenia, n=4238 controls).
- Processed genotyping data using Birdsuite and analyzed with PLINK.
- Validated potential chromosomal anomalies using custom nanostring probes and quantitative PCR.
Main Results:
- Estimated chromosomal alteration frequency at 0.42% in the schizophrenia cohort, not significantly different from controls (0.26%).
- Identified and validated four large chromosomal anomalies (>10 Mb) in schizophrenia subjects.
- Specific anomalies included trisomy 8 and deletion of the q arm of chromosome 7.
Conclusions:
- Chromosomal anomalies are present at a low frequency in blood cells of both schizophrenia patients and control individuals.
- While overall frequencies do not differ significantly, specific large chromosomal anomalies were identified in schizophrenia subjects.
- These findings contribute to understanding the genomic landscape of schizophrenia.
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