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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%...
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,...
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.
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...
Schizophrenia01:17

Schizophrenia

Schizophrenia, a term introduced by Swiss psychiatrist Eugen Bleuler in 1911, describes a severe psychological disorder marked by profound disruptions in attention, thought processes, language, emotion, and interpersonal relationships. The core feature of schizophrenia is psychosis — a state characterized by a fundamental detachment from reality. This disconnection manifests through distorted logic, impaired perception, and atypical behavior, severely affecting the lives of those diagnosed.

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Related Experiment Video

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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

New copy number variations in schizophrenia.

Chiara Magri1, Emilio Sacchetti, Michele Traversa

  • 1Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Brescia University School of Medicine, Brescia, Italy.

Plos One
|October 23, 2010
PubMed
Summary

This study investigated copy number variations (CNVs) in Italian schizophrenia patients, identifying known and novel rare CNVs. These findings support a model where multiple rare genetic variants contribute to schizophrenia risk.

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Area of Science:

  • Neurogenetics
  • Psychiatric Disorders
  • Human Genetics

Background:

  • Copy number variations (CNVs) are increasingly recognized as risk factors for schizophrenia.
  • The specific contribution of rare, large CNVs to schizophrenia pathogenesis remains largely unknown.
  • Previous genome-wide screenings have identified several CNV regions associated with schizophrenia risk.

Purpose of the Study:

  • To systematically search for CNVs in an Italian cohort of schizophrenia patients and healthy controls.
  • To confirm previously identified schizophrenia risk loci.
  • To identify novel candidate genes and CNV regions associated with schizophrenia susceptibility.

Main Methods:

  • Genome-wide screening using Affymetrix 6.0 arrays.
  • Analysis of 172 schizophrenia patients and 160 healthy controls of Italian origin.
  • Identification and characterization of copy number variations (CNVs).

Main Results:

  • Replication of previously identified risk regions including NRXN1, 16p13.1, 15q11.2, and 15q13.3.
  • Identification of CNVs in novel loci (2q12.2, 3q29, 17p12) not previously formally associated with schizophrenia.
  • Discovery of five large CNVs (>900 kb) in new candidate regions (4q32, 5q14.3, 8q23.3, 11q25, 17q12).

Conclusions:

  • The findings reinforce the role of rare, highly penetrant CNVs in schizophrenia.
  • This study contributes to understanding the genetic architecture of schizophrenia, highlighting the impact of multiple rare variants.
  • The identified novel CNVs and candidate genes warrant further investigation into their role in schizophrenia development.