Related Experiment Video
Updated: Jun 7, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
[Genetic variation with increased risk of schizophrenia]
Steven C Bakker1, René S Kahn, Roel A Ophoff
1Universitair Medisch Centrum Utrecht, Afdeling Psychiatrie, Rudolf Magnus Instituut, Utrecht, the Netherlands. sbakker2@umcutrecht.nl
Abstract:
Schizophrenia is a complex genetic disorder which is caused by multiple heritable and environmental factors. Large-scale screening of the entire DNA has recently resulted in the identification of several DNA variants associated with schizophrenia. The variants identified are single nucleotide polymorphisms (SNPs) with a high frequency in the population and a small effect, and rare copy number variants (CNVs) with larger effects. Variants are not unique to patients, and appear to be involved in multiple psychiatric disorders. The underlying biological mechanisms are not evident. Together, the identified variants only explain a fraction of all cases of the disease. Genetic testing of family members of patients may become feasible in the near future. For other clinical applications additional variants need to be identified first.
More Related Videos
08:04Derivation, Expansion, Cryopreservation and Characterization of Brain Microvascular Endothelial Cells from Human Induced Pluripotent Stem Cells
Published on: November 19, 2020
04:41Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
Related Concept Videos
Psychological and Sociocultural Causes of Schizophrenia
Biological Causes of Schizophrenia
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin studies.
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...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
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%...