| Title |
High Frequencies of De Novo CNVs in Bipolar Disorder and Schizophrenia
|
|---|---|
| Published in |
Neuron, December 2011
|
| DOI | 10.1016/j.neuron.2011.11.007 |
| Pubmed ID | |
| Authors |
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, Jonathan Sebat |
| 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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X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Ireland | 1 | 20% |
| Canada | 1 | 20% |
| United Kingdom | 1 | 20% |
| Unknown | 2 | 40% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 4 | 80% |
| Members of the public | 1 | 20% |
Mendeley demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 5 | 1% |
| United Kingdom | 4 | 1% |
| Germany | 3 | <1% |
| Japan | 2 | <1% |
| Italy | 2 | <1% |
| Spain | 2 | <1% |
| Portugal | 1 | <1% |
| Iceland | 1 | <1% |
| China | 1 | <1% |
| Other | 1 | <1% |
| Unknown | 318 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 63 | 19% |
| Researcher | 63 | 19% |
| Student > Bachelor | 33 | 10% |
| Student > Master | 31 | 9% |
| Professor | 23 | 7% |
| Other | 66 | 19% |
| Unknown | 61 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 94 | 28% |
| Biochemistry, Genetics and Molecular Biology | 54 | 16% |
| Medicine and Dentistry | 39 | 11% |
| Neuroscience | 35 | 10% |
| Psychology | 29 | 9% |
| Other | 14 | 4% |
| Unknown | 75 | 22% |