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Rare chromosomal deletions and duplications increase risk of schizophrenia

Stone, Jennifer L., O'Donovan, Michael Conlon ORCID:, Gurling, Hugh, Kirov, George ORCID:, Blackwood, Douglas H. R., Corvin, Aiden, Craddock, Nicholas John ORCID:, Gill, Michael, Hultman, Christina M., Lichtenstein, Paul, McQuillin, Andrew, Pato, Carlos N., Ruderfer, Douglas M., Owen, Michael John ORCID:, St Clair, David, Sullivan, Patrick F., Sklar, Pamela, Purcell, Shaun M., Korn, Joshua, Macgregor, Stuart, Morris, Derek W., O'Dushlaine, Colm T., Daly, Mark J., Visscher, Peter M., Holmans, Peter Alan ORCID:, Scolnick, Edward M., Williams, Nigel Melville ORCID:, Georgieva, Lyudmila, Nikolov, Ivan, Norton, Nadine ORCID:, Williams, Hywel John ORCID:, Toncheva, Draga, Milanova, Vihra, Thelander, Emma F., Kenny, Elaine, Waddington, John L., Choudhury, Khalid, Datta, Susmita, Pimm, Jonathan, Thirumalai, Srinivasa, Puri, Vinay, Krasucki, Robert, Lawrence, Jacob, Quested, Digby, Bass, Nicholas, Curtis, David, Crombie, Caroline, Fraser, Gillian, Leh Kwan, Soh, Walker, Nicholas, Muir, Walter J., McGhee, Kevin A., Pickard, Ben, Malloy, Pat, Maclean, Alan W., Van Beck, Margaret, Pato, Michele T., Medeiros, Helena, Middleton, Frank, Carvalho, Celia, Morley, Christopher, Fanous, Ayman, Conti, David, Knowles, James A., Paz Ferreira, Carlos, Macedo, Antonio, Azevedo, M. Helena, McCarroll, Steve A., Daly, Mark, Chambert, Kimberly, Gates, Casey, Gabriel, Stacey B., Mahon, Scott and Ardlie, Kristen 2008. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455 (7210) , pp. 237-241. 10.1038/nature07239

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Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73–90% (ref. 1). 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 schizophrenia2, 3, 4, 5, 6, 7 and also in neurodevelopmental disorders8, 9, 10, 11, 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 involved genes as opposed to those that did not. As expected, deletions were found within the region critical for velo-cardio-facial syndrome, which includes psychotic symptoms in 30% of patients12. Associations with schizophrenia were also found for large deletions on chromosome 15q13.3 and 1q21.1. These associations have not previously been reported, and they remained significant after genome-wide correction. Our results provide strong support for a model of schizophrenia pathogenesis that includes the effects of multiple rare structural variants, both genome-wide and at specific loci

Item Type: Article
Date Type: Publication
Status: Published
Schools: Neuroscience and Mental Health Research Institute (NMHRI)
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Systems Immunity Research Institute (SIURI)
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Additional Information: Authors are members of The International Schizophrenia Consortium
Publisher: Nature Publishing Group
ISSN: 0028-0836
Last Modified: 07 Nov 2022 07:50

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