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Rare chromosomal deletions and duplications increase risk of schizophrenia
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2008 (English)In: Nature, ISSN 0028-0836, Vol. 455, no 7210, 237-241 p.Article in journal (Refereed) Published
Abstract [en]

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 schizophrenia(2-7) and also in neurodevelopmental disorders(8-11), 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 patients(12). 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.

Place, publisher, year, edition, pages
2008. Vol. 455, no 7210, 237-241 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-109079DOI: 10.1038/nature07239ISI: 000259090800050OAI: oai:DiVA.org:uu-109079DiVA: diva2:248807
Available from: 2009-10-09 Created: 2009-10-09 Last updated: 2009-10-09Bibliographically approved

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