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High frequencies of De Novo CNVs in bipolar disorder and schizophrenia

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 ana...

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Main Authors: Malhotra, Dheeraj (Author) , McCarthy, Shane (Author) , Michaelson, Jacob J. (Author) , Vacic, Vladimir (Author) , Burdick, Katherine E. (Author) , Yoon, Seungtai (Author) , Cichon, Sven (Author) , Corvin, Aiden (Author) , Gary, Sydney (Author) , Gershon, Elliot S. (Author) , Gill, Michael (Author) , Karayiorgou, Maria (Author) , Kelsoe, John R. (Author) , Krastoshevsky, Olga (Author) , Krause, Verena (Author) , Leibenluft, Ellen (Author) , Levy, Deborah L. (Author) , Makarov, Vladimir (Author) , Bhandari, Abhishek (Author) , Malhotra, Anil K. (Author) , McMahon, Francis J. (Author) , Nöthen, Markus M. (Author) , Potash, James B. (Author) , Rietschel, Marcella (Author) , Schulze, Thomas G. (Author) , Sebat, Jonathan (Author)
Format: Article (Journal)
Language:English
Published: 21 December 2011
In: Neuron
Year: 2011, Volume: 72, Issue: 6, Pages: 951-963
ISSN:1097-4199
DOI:10.1016/j.neuron.2011.11.007
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.neuron.2011.11.007
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0896627311010063
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Author Notes:Dheeraj Malhotra, Shane McCarthy, Jacob J. Michaelson, Vladimir Vacic, Katherine E. Burdick, Seungtai Yoon, Sven Cichon, Aiden Corvin, Sydney Gary, Elliot S. Gershon, Michael Gill, Maria Karayiorgou, John R. Kelsoe, Olga Krastoshevsky, Verena Krause, Ellen Leibenluft, Deborah L. Levy, Vladimir Makarov, Abhishek Bhandari, Anil K. Malhotra, Francis J. McMahon, Markus M. Nöthen, James B. Potash, Marcella Rietschel, Thomas G. Schulze and Jonathan Sebat
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Summary: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 Description:Gesehen am 09.08.2022
Physical Description:Online Resource
ISSN:1097-4199
DOI:10.1016/j.neuron.2011.11.007

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