Related Experiment Video
Updated: Jul 11, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Gene copy number variation in schizophrenia.
Smitha R Sutrala1, Dirk Goossens, Nigel M Williams
1Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, CF14 4XN, UK.
This study investigated gene copy number variations (CNVs) potentially linked to schizophrenia. Researchers found no evidence of these CNVs in tested populations, questioning previous findings and emphasizing the need for reliable validation methods.
Area of Science:
- Genetics
- Neuroscience
- Complex Disorders
Background:
- Gene copy number variations (CNVs) are increasingly recognized for their role in complex disorders.
- Previous research suggested CNVs in GRIK3, EFNA5, AKAP5, and CACNG2 genes might be associated with schizophrenia.
- Validation of high-throughput methods like comparative genomic hybridization is crucial due to potential false positives.
Purpose of the Study:
- To validate previously reported copy number variations (CNVs) in specific genes associated with schizophrenia.
- To assess the reliability of findings suggesting a link between these CNVs and schizophrenia pathogenesis.
- To investigate the presence of CNVs in GRIK3, EFNA5, AKAP5, and CACNG2 genes in different populations.
Main Methods:
- Utilized two contrasting methodologies: allele quantification by DNA pooling and Multiplex Amplicon Quantification (MAQ).
- Tested DNA samples from UK, Belgium, and northern Sweden populations, including those from the original investigation.
- Focused on validating reported copy number variations in four specific genes implicated in schizophrenia.
Main Results:
- No copy number variations were detected in any of the investigated genes across all tested samples and populations.
- The findings contradict previous reports suggesting an association between these specific CNVs and schizophrenia.
- The study highlights potential inaccuracies in high-throughput methods for CNV detection.
Conclusions:
- The investigated gene copy number variations (CNVs) do not appear to be associated with schizophrenia in the studied populations.
- Reliable validation of CNVs using robust methodologies is essential before conducting large-scale association studies.
- Further research is needed to clarify the role of genetic variations in schizophrenia pathogenesis.
Related Concept Videos
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Biological Causes of Schizophrenia
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin studies.
Single Nucleotide Polymorphisms-SNPs
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within the...
Psychological and Sociocultural Causes of Schizophrenia
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...

