Article

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

Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA.
Neuron (impact factor: 14.74). 12/2011; 72(6):951-63. DOI:10.1016/j.neuron.2011.11.007
Source: PubMed

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.

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Keywords

bipolar disorder
 
CNVs
 
de novo CNVs
 
de novo mutations
 
Diagnoses
 
evident
 
genome-wide analysis
 
healthy controls
 
major neuropsychiatric diseases
 
mood disorders
 
neuropsychiatric disorders
 
onset younger
 
rare copy-number variants
 
rare spontaneous mutations
 
significant enrichment