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

2.50
Hdl Handle:
http://hdl.handle.net/10147/245311
Title:
High frequencies of de novo CNVs in bipolar disorder and schizophrenia.
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
Affiliation:
Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA.
Citation:
High frequencies of de novo CNVs in bipolar disorder and schizophrenia. 2011, 72 (6):951-63 Neuron
Journal:
Neuron
Issue Date:
22-Dec-2011
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
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
ISSN:
1097-4199

Full metadata record

DC FieldValue Language
dc.contributor.authorMalhotra, Dheerajen_GB
dc.contributor.authorMcCarthy, Shaneen_GB
dc.contributor.authorMichaelson, Jacob Jen_GB
dc.contributor.authorVacic, Vladimiren_GB
dc.contributor.authorBurdick, Katherine Een_GB
dc.contributor.authorYoon, Seungtaien_GB
dc.contributor.authorCichon, Svenen_GB
dc.contributor.authorCorvin, Aidenen_GB
dc.contributor.authorGary, Sydneyen_GB
dc.contributor.authorGershon, Elliot Sen_GB
dc.contributor.authorGill, Michaelen_GB
dc.contributor.authorKarayiorgou, Mariaen_GB
dc.contributor.authorKelsoe, John Ren_GB
dc.contributor.authorKrastoshevsky, Olgaen_GB
dc.contributor.authorKrause, Verenaen_GB
dc.contributor.authorLeibenluft, Ellenen_GB
dc.contributor.authorLevy, Deborah Len_GB
dc.contributor.authorMakarov, Vladimiren_GB
dc.contributor.authorBhandari, Abhisheken_GB
dc.contributor.authorMalhotra, Anil Ken_GB
dc.contributor.authorMcMahon, Francis Jen_GB
dc.contributor.authorNöthen, Markus Men_GB
dc.contributor.authorPotash, James Ben_GB
dc.contributor.authorRietschel, Marcellaen_GB
dc.contributor.authorSchulze, Thomas Gen_GB
dc.contributor.authorSebat, Jonathanen_GB
dc.date.accessioned2012-09-20T14:26:53Z-
dc.date.available2012-09-20T14:26:53Z-
dc.date.issued2011-12-22-
dc.identifier.citationHigh frequencies of de novo CNVs in bipolar disorder and schizophrenia. 2011, 72 (6):951-63 Neuronen_GB
dc.identifier.issn1097-4199-
dc.identifier.pmid22196331-
dc.identifier.doi10.1016/j.neuron.2011.11.007-
dc.identifier.urihttp://hdl.handle.net/10147/245311-
dc.description.abstractWhile 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.en_GB
dc.language.isoenen
dc.rightsArchived with thanks to Neuronen_GB
dc.subject.meshAdolescent-
dc.subject.meshAdult-
dc.subject.meshBipolar Disorder-
dc.subject.meshCase-Control Studies-
dc.subject.meshChild-
dc.subject.meshDNA Copy Number Variations-
dc.subject.meshFemale-
dc.subject.meshGenetic Variation-
dc.subject.meshGenome-Wide Association Study-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshSchizophrenia-
dc.subject.meshYoung Adult-
dc.titleHigh frequencies of de novo CNVs in bipolar disorder and schizophrenia.en_GB
dc.typeArticleen
dc.contributor.departmentBeyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA.en_GB
dc.identifier.journalNeuronen_GB
dc.description.provinceLeinsteren

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