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The Origins of Schizophrenia$
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Alan Brown and Paul Patterson

Print publication date: 2011

Print ISBN-13: 9780231151245

Published to Columbia Scholarship Online: November 2015

DOI: 10.7312/columbia/9780231151245.001.0001

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Genetic Architecture of Schizophrenia

Genetic Architecture of Schizophrenia

The Contribution of Copy Number Variation

(p.210) Chapter 8 Genetic Architecture of Schizophrenia
The Origins of Schizophrenia

Maria Karayiorgou

Rebecca J. Levy

Bin Xu

Columbia University Press

This chapter focuses on schizophrenia-associated copy number variants (CNV). CNVs are alterations of the DNA of a genome that result in the cell having an abnormal or, for certain genes, a normal variation in the number of copies of one or more sections of the DNA. Studies show that these rare mutations are an integral component of the genetic architecture of schizophrenia and account for a large portion of the genetic heterogeneity of the disease. A microdeletion of 22q11.2 was the first CNV associated with schizophrenia. Since its discovery 15 years ago, a strong and specific relationship has been established between the presence of the 22q11.2 microdeletion and psychosis in schizophrenia or schizoaffective disorder. Up to one-third of all individuals carrying this microdeletion develop schizophrenia or schizoaffective disorder during late adolescence and early adulthood.

Keywords:   copy number variants, 22q11.2 microdeletion, genome, schizophrenia, genetic heterogeneity

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