High frequencies of de novo CNVs in bipolar disorder and schizophrenia.
Michaelson, Jacob J
Burdick, Katherine E
Gershon, Elliot S
Kelsoe, John R
Levy, Deborah L
Malhotra, Anil K
McMahon, Francis J
Nöthen, Markus M
Potash, James B
Schulze, Thomas G
AffiliationBeyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA.
DNA Copy Number Variations
Genome-Wide Association Study
MetadataShow full item record
CitationHigh frequencies of de novo CNVs in bipolar disorder and schizophrenia. 2011, 72 (6):951-63 Neuron
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.
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