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Rare chromosomal deletions and duplications increase risk of schizophrenia

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dc.contributor.authorCraddock, N. J.
dc.contributor.authorGill, M.
dc.contributor.authorHultman, C. M.
dc.contributor.authorLichtenstein, P.
dc.contributor.authorMcQuillin, A.
dc.contributor.authorPato, Carlos N.
dc.contributor.authorRuderfer, D. M.
dc.contributor.authorOwen, M. J.
dc.contributor.authorSt Clair, David
dc.contributor.authorSullivan, P. F.
dc.contributor.authorSklar, P.
dc.contributor.authorPurcell, S. M.
dc.contributor.authorStone, J. L
dc.contributor.authorKorn, Joshua
dc.contributor.authorMacgregor, S.
dc.contributor.authorMorris, D. W.
dc.contributor.authorO'Dushlaine, C. T.
dc.contributor.authorDaly, M. J.
dc.contributor.authorVisscher, P. M.
dc.contributor.authorHolmans, P. A.
dc.contributor.authorScolnick, E: M.
dc.contributor.authorWilliams, N. M.
dc.contributor.authorGeorgieva, L.
dc.contributor.authorNikolov, I.
dc.contributor.authorNorton, N.
dc.contributor.authorWilliams, H.
dc.contributor.authorToncheva, D.
dc.contributor.authorMilanova, V.
dc.contributor.authorThelander, Emma F.
dc.contributor.authorSullivan, P. F.
dc.contributor.authorKenny, E.
dc.contributor.authorWaddington, John L.
dc.contributor.authorChoudhury, K.
dc.contributor.authorDatta, S.
dc.contributor.authorPimm, J.
dc.contributor.authorThirumalai, S.
dc.contributor.authorPuri, V.
dc.contributor.authorKrasucki, R.
dc.contributor.authorLawrence, J.
dc.contributor.authorQuested, D.
dc.contributor.authorBass, N.
dc.contributor.authorCurtis, David
dc.contributor.authorGurling, H.
dc.contributor.authorCrombie, C.
dc.contributor.authorFraser, G.
dc.contributor.authorKwan, Soh Leh
dc.contributor.authorWalker, N.
dc.contributor.authorMuir, W. J.
dc.contributor.authorMcGhee, K. A.
dc.contributor.authorPickard, B.
dc.contributor.authorMalloy, P.
dc.contributor.authorMaclean, A. W.
dc.contributor.authorVan Beck, Margaret
dc.contributor.authorVisscher, P. M.
dc.contributor.authorPato, Michele T.
dc.contributor.authorMedeiros, Helena
dc.contributor.authorMiddleton, Frank A.
dc.contributor.authorCarvalho, Célia
dc.contributor.authorMorley, C.
dc.contributor.authorFanous, Ayman H.
dc.contributor.authorConti, D.
dc.contributor.authorKnowles, James A.
dc.contributor.authorFerreira, Carlos Paz
dc.contributor.authorMacedo, António
dc.contributor.authorAzevedo, Maria H.
dc.contributor.authorMcCarroll, Steve A.
dc.contributor.authorDaly, M. J.
dc.contributor.authorChambert, Kimberly
dc.contributor.authorGates, Casey
dc.date.accessioned2017-03-03T13:02:40Z
dc.date.available2017-03-03T13:02:40Z
dc.date.issued2008
dc.description.abstractSchizophrenia 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 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 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.en
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCraddock, N.J., Gill, M., Hultman, C.M., Lichtenstein, P., McQuillin,A., Pato, C.N., Ruderfer, D.M., Owen, M.J., St Clair, D., Sullivan, P.F., Sklar, P., Purcell, S.M., Stone, J.L., Korn, J., Macgregor, S., Morris, D.W., O'Dushlaine, C.T., Daly, M.J., Visscher, P.M., Holmans, P.A., Scolnick, E.M., Williams, N.M., Georgieva, L., Nikolov, I., Norton, N., Williams, H., Toncheva, D., Milanova, V., Thelander, E.F., Sullivan, P., Kenny,E., Waddington, J.L., Choudhury, K., Datta, S., Pimm, J., Thirumalai, S., Puri, V., Krasucki, R., Lawrence, J., Quested, D., Bass, N., Curtis, D., Gurling, H., Crombie, C., Fraser, G., Kwan, S.L., Walker, N., Muir, W.J., McGhee, K.A., Pickard, B., Malloy, P., Maclean, A.W., Van Beck, M., Visscher, P.M., Pato, M.T., Medeiros, H., Middleton, F., Carvalho, C., Morley, C., Fanous, A., Conti, D., Knowles, J.A., Ferreira, C.P., Macedo, A., Azevedo, M.H., McCarroll, S.A., Daly, M., Chambert, K., Gates, C. (2008). Rare chromosomal deletions and duplications increase risk of schizophrenia. "Nature", 455(7210):237-241.en
dc.identifier.doi10.1038/nature07239pt_PT
dc.identifier.issn1476-4687 (Online)
dc.identifier.urihttp://hdl.handle.net/10400.3/4005
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherNature Publishing Groupen
dc.relation.publisherversionhttp://www.nature.com/nature/journal/v455/n7210/full/nature07239.htmlpt_PT
dc.subjectSchizophreniaen
dc.subjectPsychiatric Disorderen
dc.subjectGeneticen
dc.titleRare chromosomal deletions and duplications increase risk of schizophreniaen
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage241pt_PT
oaire.citation.issue(7210)pt_PT
oaire.citation.startPage237pt_PT
oaire.citation.titleNaturept_PT
oaire.citation.volume455pt_PT
rcaap.rightsclosedAccesspt_PT
rcaap.typearticlept_PT

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