作者
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
发表日期
2011/12/22
期刊
Neuron
卷号
72
期号
6
页码范围
951-963
出版商
Elsevier
简介
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 …
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D Malhotra, S McCarthy, JJ Michaelson, V Vacic… - Neuron, 2011