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Copy Number Variation and Psychiatric Disease Risk

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Genomic Structural Variants

Part of the book series: Methods in Molecular Biology ((MIMB,volume 838))

Abstract

Psychiatric disorders are multifactorial in nature with complex genetic architecture. A number of recent studies, building upon earlier findings of copy number variants (CNVs) at the 22q11.2 locus, suggest that rare CNVs represent an important component of genetic heterogeneity in the etiology of complex psychiatric diseases, such as schizophrenia. De novo CNVs are found with higher frequency among sporadic cases, whereas inherited CNVs are enriched among familial cases. Despite substantial progress, a number of challenges remain, such as pinpointing causative relationships between specific gene(s) affected by CNVs and disease phenotypes as well as distinguishing abnormal structural mutations from neutral polymorphisms and establishing a clear association between individual pathogenic CNV and disease phenotypes.

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Author information

Authors and Affiliations

  1. Department of Psychiatry, Columbia University Medical Center, New York, NY, USA

    Rebecca J. Levy, Bin Xu & Maria Karayiorgou

  2. Doctoral Program in Neurobiology and Behavior, Columbia University, New York, NY, USA

    Rebecca J. Levy

  3. Department of Physiology and Cellular Biophysics, Columbia University Medical Center, New York, NY, USA

    Bin Xu & Joseph A. Gogos

  4. Department of Neuroscience, Columbia University Medical Center, New York, NY, USA

    Joseph A. Gogos

  5. New York State Psychiatric Institute, New York, NY, USA

    Maria Karayiorgou

Authors
  1. Rebecca J. Levy
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  2. Bin Xu
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  3. Joseph A. Gogos
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  4. Maria Karayiorgou
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Corresponding author

Correspondence to Maria Karayiorgou .

Editor information

Editors and Affiliations

  1. Dept. Immunology, Genetics & Pathology, Uppsala University, Dag Hammarskjölds väg 20, Uppsala, 751 85, Sweden

    Lars Feuk

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© 2012 Springer Science+Business Media, LLC

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Levy, R.J., Xu, B., Gogos, J.A., Karayiorgou, M. (2012). Copy Number Variation and Psychiatric Disease Risk. In: Feuk, L. (eds) Genomic Structural Variants. Methods in Molecular Biology, vol 838. Springer, New York, NY. https://doi.org/10.1007/978-1-61779-507-7_4

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  • DOI: https://doi.org/10.1007/978-1-61779-507-7_4

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-61779-506-0

  • Online ISBN: 978-1-61779-507-7

  • eBook Packages: Springer Protocols

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