作者
Cardiff University O’Donovan Michael C. 5 Kirov George K. 5 Craddock Nick J. 5 Holmans Peter A. 5 Williams Nigel M. 5 Georgieva Lucy 5 Nikolov Ivan 5 Norton N. 5 Williams H. 5 Toncheva Draga 15 Milanova Vihra 16 Owen Michael J. 5, Karolinska Institutet/University of North Carolina at Chapel Hill Hultman Christina M. 9 10 Lichtenstein Paul 9 Thelander Emma F. 9 Sullivan Patrick 13, Trinity College Dublin Morris Derek W. 8 O’Dushlaine Colm T. 8 Kenny Elaine 8 Waddington John L. 17 Gill Michael 8 Corvin Aiden 8, University College London McQuillin Andrew 6 Choudhury Khalid 6 Datta Susmita 6 Pimm Jonathan 6 Thirumalai Srinivasa 18 Puri Vinay 6 Krasucki Robert 6 Lawrence Jacob 6 Quested Digby 19 29 29 Bass Nicholas 6 Curtis David 20 Gurling Hugh 6, University of Aberdeen Crombie Caroline 21 Fraser Gillian 21 Leh Kwan Soh 12 Walker Nicholas 22 St Clair David 12, University of Edinburgh Blackwood Douglas HR 7 Muir Walter J. 7 McGhee Kevin A. 7 Pickard Ben 7 Malloy Pat 7 Maclean Alan W. 7 Van Beck Margaret 7, Queensland Institute of Medical Research Visscher Peter M. 14 Macgregor Stuart 14, Massachusetts General Hospital Stone Jennifer L. 1 2 3 4 Ruderfer Douglas M. 1 2 3 4 Korn Joshua 3 4 McCarroll Steve A. 3 4 Daly Mark 2 3 4 Purcell Shaun M. 1 2 3 4 Sklar Pamela sklar@ chgr. mgh. harvard. edu 1 2 3 4 h
发表日期
2008/9/11
期刊
Nature
卷号
455
期号
7210
页码范围
237-241
出版商
Nature Publishing Group UK
简介
Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73–90% (ref. ). Inheritance patterns are complex, and the number and type of genetic variants involved are not understood. Copy number variants (CNVs) have been identified in individual patients with schizophrenia,,,,, and also in neurodevelopmental disorders,,,, but large-scale genome-wide surveys have not been performed. Here we report a genome-wide survey of rare CNVs in 3,391 patients with schizophrenia and 3,181 ancestrally matched controls, using high-density microarrays. For CNVs that were observed in less than 1% of the sample and were more than 100 kilobases in length, the total burden is increased 1.15-fold in patients with schizophrenia in comparison with controls. This effect was more pronounced for rarer, single-occurrence CNVs and for those that …
引用总数
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Cardiff University O'Donovan Michael C. 5 Kirov … - Nature, 2008