High frequencies of de novo CNVs in bipolar disorder and schizophrenia.
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Authors
Malhotra, DheerajMcCarthy, 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
Affiliation
Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA.Issue Date
2011-12-22MeSH
AdolescentAdult
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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High frequencies of de novo CNVs in bipolar disorder and schizophrenia. 2011, 72 (6):951-63 NeuronJournal
NeuronDOI
10.1016/j.neuron.2011.11.007PubMed ID
22196331Abstract
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
ArticleLanguage
enISSN
1097-4199ae974a485f413a2113503eed53cd6c53
10.1016/j.neuron.2011.11.007
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