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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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 Schizophrenia01:29

Biological Causes of Schizophrenia

Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin studies.
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders

Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
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 Schizophrenia01:29

Psychological and Sociocultural Causes of Schizophrenia

Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Related Experiment Video

Updated: Jul 11, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

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.

Schizophrenia Research
|September 11, 2007
PubMed
Summary

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.

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Related Experiment Videos

Last Updated: Jul 11, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

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.