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    High frequencies of de novo CNVs in bipolar disorder and schizophrenia.

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    Authors
    Malhotra, Dheeraj
    McCarthy, Shane
    Michaelson, Jacob J
    Vacic, Vladimir
    Burdick, Katherine E
    Yoon, Seungtai
    Cichon, Sven
    Corvin, Aiden
    Gary, Sydney
    Gershon, Elliot S
    Gill, Michael
    Karayiorgou, Maria
    Kelsoe, John R
    Krastoshevsky, Olga
    Krause, Verena
    Leibenluft, Ellen
    Levy, Deborah L
    Makarov, Vladimir
    Bhandari, Abhishek
    Malhotra, Anil K
    McMahon, Francis J
    Nöthen, Markus M
    Potash, James B
    Rietschel, Marcella
    Schulze, Thomas G
    Sebat, Jonathan
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    Affiliation
    Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA.
    Issue Date
    2011-12-22
    MeSH
    Adolescent
    Adult
    Bipolar Disorder
    Case-Control Studies
    Child
    DNA Copy Number Variations
    Female
    Genetic Variation
    Genome-Wide Association Study
    Humans
    Male
    Schizophrenia
    Young Adult
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    Citation
    High frequencies of de novo CNVs in bipolar disorder and schizophrenia. 2011, 72 (6):951-63 Neuron
    Journal
    Neuron
    URI
    http://hdl.handle.net/10147/245311
    DOI
    10.1016/j.neuron.2011.11.007
    PubMed ID
    22196331
    Abstract
    While it is known that rare copy-number variants (CNVs) contribute to risk for some neuropsychiatric disorders, the role of CNVs in bipolar disorder is unclear. Here, we reasoned that a contribution of CNVs to mood disorders might be most evident for de novo mutations. We performed a genome-wide analysis of de novo CNVs in a cohort of 788 trios. Diagnoses of offspring included bipolar disorder (n = 185), schizophrenia (n = 177), and healthy controls (n = 426). Frequencies of de novo CNVs were significantly higher in bipolar disorder as compared with controls (OR = 4.8 [1.4,16.0], p = 0.009). De novo CNVs were particularly enriched among cases with an age at onset younger than 18 (OR = 6.3 [1.7,22.6], p = 0.006). We also confirmed a significant enrichment of de novo CNVs in schizophrenia (OR = 5.0 [1.5,16.8], p = 0.007). Our results suggest that rare spontaneous mutations are an important contributor to risk for bipolar disorder and other major neuropsychiatric diseases.
    Item Type
    Article
    Language
    en
    ISSN
    1097-4199
    ae974a485f413a2113503eed53cd6c53
    10.1016/j.neuron.2011.11.007
    Scopus Count
    Collections
    St. James's Hospital

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