Structural variation in schizophrenia
General background
Schizophrenia is severe psychiatric disease with complex etiology, affecting approximately one percent of the general population. Most genetic studies so far focused on disease association with variation at the SNP level, but it has become apparent that genomic copy number variants (CNVs) may be involved in disease susceptibility as well. To assess the role of CNVs in schizophrenia, we performed three different microarray-based studies, and identified CNVs in CNTNAP2, MYT1L, CTNND2, NRXN1, ASTN2 and RORA, which all may affect schizophrenia development.
Objective
To identify rare genomic CNVs involved in schizophrenia.
Approach
We initially selected a small group of patients with specific forms of schizophrenia for discovery of the CNVs. We used Array CGH to assess and identify CNVs that have not been identified in the general population. We confirmed these CNVs with Multiplex Ligation-dependant Probe Amplification (MLPA), and identified CNVs in the same regions in multiple individuals in a larger replication cohort of more general schizophrenia patients.
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