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Article: Large recurrent microdeletions associated with schizophrenia

TitleLarge recurrent microdeletions associated with schizophrenia
Authors
KeywordsReferences (31) View In Table Layout
Issue Date2008
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/nature
Citation
Nature, 2008, v. 455 n. 7210, p. 232-236 How to Cite?
AbstractReduced fecundity, associated with severe mental disorders, places negative selection pressure on risk alleles and may explain, in part, why common variants have not been found that confer risk of disorders such as autism, schizophrenia and mental retardation. Thus, rare variants may account for a larger fraction of the overall genetic risk than previously assumed. In contrast to rare single nucleotide mutations, rare copy number variations (CNVs) can be detected using genome-wide single nucleotide polymorphism arrays. This has led to the identification of CNVs associated with mental retardation and autism. In a genome-wide search for CNVs associating with schizophrenia, we used a population-based sample to identify de novo CNVs by analysing 9,878 transmissions from parents to offspring. The 66 de novo CNVs identified were tested for association in a sample of 1,433 schizophrenia cases and 33,250 controls. Three deletions at 1q21.1, 15q11.2 and 15q13.3 showing nominal association with schizophrenia in the first sample (phase I) were followed up in a second sample of 3,285 cases and 7,951 controls (phase II). All three deletions significantly associate with schizophrenia and related psychoses in the combined sample. The identification of these rare, recurrent risk variants, having occurred independently in multiple founders and being subject to negative selection, is important in itself. CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia. ©2008 Macmillan Publishers Limited. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/141844
ISSN
2014 Impact Factor: 41.456
2014 SCImago Journal Rankings: 17.313
PubMed Central ID
ISI Accession Number ID
Funding AgencyGrant Number
EU grantLSHM-CT-2006-037761 ( Project SGENE)
Simons Foundation
NIMHR01 MH078075
Chinese National Natural Science Foundation
National Genomic Network (NGFN-2) of the German Federal Ministry of Education and Research (BMBF)
Alfried Krupp von Bohlen und Halbach-Stiftung
R01MH71425-01A1
Funding Information:

We want to thank the subjects and their relatives and staff at the recruitment centres. This work was sponsored by EU grant LSHM-CT-2006-037761 ( Project SGENE), Simons Foundation and R01MH71425-01A1. Genotyping of the Dutch samples was sponsored by NIMH funding, R01 MH078075. This work was also supported by the Chinese National Natural Science Foundation and the National Genomic Network (NGFN-2) of the German Federal Ministry of Education and Research (BMBF). M.M.N. received support from the Alfried Krupp von Bohlen und Halbach-Stiftung. We are grateful to S. Schreiber and M. Krawczak for providing genotype data for PopGen controls, and to K.- H. Jockel and R. Erbel for providing control individuals from the Heinz Nixdorf Recall Study. We thank L. Priebe and M. Alblas for technical assistance and analysis of CNV data from Bonn.

References

 

DC FieldValueLanguage
dc.contributor.authorStefansson, Hen_HK
dc.contributor.authorRujescu, Den_HK
dc.contributor.authorCichon, Sen_HK
dc.contributor.authorPietiläinen, OPHen_HK
dc.contributor.authorIngason, Aen_HK
dc.contributor.authorSteinberg, Sen_HK
dc.contributor.authorFossdal, Ren_HK
dc.contributor.authorSigurdsson, Een_HK
dc.contributor.authorSigmundsson, Ten_HK
dc.contributor.authorBuizerVoskamp, JEen_HK
dc.contributor.authorHansen, Ten_HK
dc.contributor.authorJakobsen, KDen_HK
dc.contributor.authorMuglia, Pen_HK
dc.contributor.authorFrancks, Cen_HK
dc.contributor.authorMatthews, PMen_HK
dc.contributor.authorGylfason, Aen_HK
dc.contributor.authorHalldorsson, BVen_HK
dc.contributor.authorGudbjartsson, Den_HK
dc.contributor.authorThorgeirsson, TEen_HK
dc.contributor.authorSigurdsson, Aen_HK
dc.contributor.authorJonasdottir, Aen_HK
dc.contributor.authorJonasdottir, Aen_HK
dc.contributor.authorBjornsson, Aen_HK
dc.contributor.authorMattiasdottir, Sen_HK
dc.contributor.authorBlondal, Ten_HK
dc.contributor.authorHaraldsson, Men_HK
dc.contributor.authorMagnusdottir, BBen_HK
dc.contributor.authorGiegling, Ien_HK
dc.contributor.authorMöller, HJen_HK
dc.contributor.authorHartmann, Aen_HK
dc.contributor.authorShianna, KVen_HK
dc.contributor.authorGe, Den_HK
dc.contributor.authorNeed, ACen_HK
dc.contributor.authorCrombie, Cen_HK
dc.contributor.authorFraser, Gen_HK
dc.contributor.authorWalker, Nen_HK
dc.contributor.authorLonnqvist, Jen_HK
dc.contributor.authorSuvisaari, Jen_HK
dc.contributor.authorTuulioHenriksson, Aen_HK
dc.contributor.authorPaunio, Ten_HK
dc.contributor.authorToulopoulou, Ten_HK
dc.contributor.authorBramon, Een_HK
dc.contributor.authorDi Forti, Men_HK
dc.contributor.authorMurray, Ren_HK
dc.contributor.authorRuggeri, Men_HK
dc.contributor.authorVassos, Een_HK
dc.contributor.authorTosato, Sen_HK
dc.contributor.authorWalshe, Men_HK
dc.contributor.authorLi, Ten_HK
dc.contributor.authorVasilescu, Cen_HK
dc.contributor.authorMühleisen, TWen_HK
dc.contributor.authorWang, AGen_HK
dc.contributor.authorUllum, Hen_HK
dc.contributor.authorDjurovic, Sen_HK
dc.contributor.authorMelle, Ien_HK
dc.contributor.authorOlesen, Jen_HK
dc.contributor.authorKiemeney, LAen_HK
dc.contributor.authorFranke, Ben_HK
dc.contributor.authorSabatti, Cen_HK
dc.contributor.authorFreimer, NBen_HK
dc.contributor.authorGulcher, JRen_HK
dc.contributor.authorThorsteinsdottir, Uen_HK
dc.contributor.authorKong, Aen_HK
dc.contributor.authorAndreassen, OAen_HK
dc.contributor.authorOphoff, RAen_HK
dc.contributor.authorGeorgi, Aen_HK
dc.contributor.authorRietschel, Men_HK
dc.contributor.authorWerge, Ten_HK
dc.contributor.authorPetursson, Hen_HK
dc.contributor.authorGoldstein, DBen_HK
dc.contributor.authorNöthen, MMen_HK
dc.contributor.authorPeltonen, Len_HK
dc.contributor.authorCollier, DAen_HK
dc.contributor.authorSt Clair, Den_HK
dc.contributor.authorStefansson, Ken_HK
dc.contributor.authorKahn, RSen_HK
dc.contributor.authorLinszen, DHen_HK
dc.contributor.authorVan Os, Jen_HK
dc.contributor.authorWiersma, Den_HK
dc.contributor.authorBruggeman, Ren_HK
dc.contributor.authorCahn, Wen_HK
dc.contributor.authorDe Haan, Len_HK
dc.contributor.authorKrabbendam, Len_HK
dc.contributor.authorMyinGermeys, Ien_HK
dc.date.accessioned2011-09-27T03:03:09Z-
dc.date.available2011-09-27T03:03:09Z-
dc.date.issued2008en_HK
dc.identifier.citationNature, 2008, v. 455 n. 7210, p. 232-236en_HK
dc.identifier.issn0028-0836en_HK
dc.identifier.urihttp://hdl.handle.net/10722/141844-
dc.description.abstractReduced fecundity, associated with severe mental disorders, places negative selection pressure on risk alleles and may explain, in part, why common variants have not been found that confer risk of disorders such as autism, schizophrenia and mental retardation. Thus, rare variants may account for a larger fraction of the overall genetic risk than previously assumed. In contrast to rare single nucleotide mutations, rare copy number variations (CNVs) can be detected using genome-wide single nucleotide polymorphism arrays. This has led to the identification of CNVs associated with mental retardation and autism. In a genome-wide search for CNVs associating with schizophrenia, we used a population-based sample to identify de novo CNVs by analysing 9,878 transmissions from parents to offspring. The 66 de novo CNVs identified were tested for association in a sample of 1,433 schizophrenia cases and 33,250 controls. Three deletions at 1q21.1, 15q11.2 and 15q13.3 showing nominal association with schizophrenia in the first sample (phase I) were followed up in a second sample of 3,285 cases and 7,951 controls (phase II). All three deletions significantly associate with schizophrenia and related psychoses in the combined sample. The identification of these rare, recurrent risk variants, having occurred independently in multiple founders and being subject to negative selection, is important in itself. CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia. ©2008 Macmillan Publishers Limited. All rights reserved.en_HK
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/natureen_HK
dc.relation.ispartofNatureen_HK
dc.subjectReferences (31) View In Table Layouten_US
dc.titleLarge recurrent microdeletions associated with schizophreniaen_HK
dc.typeArticleen_HK
dc.identifier.emailToulopoulou, T:timothea@hku.hken_HK
dc.identifier.authorityToulopoulou, T=rp01542en_HK
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.doi10.1038/nature07229en_HK
dc.identifier.pmid18668039en_HK
dc.identifier.pmcidPMC2687075-
dc.identifier.scopuseid_2-s2.0-49949085933en_HK
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dc.identifier.volume455en_HK
dc.identifier.issue7210en_HK
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dc.identifier.scopusauthoridPietiläinen, OPH=35262502200en_HK
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dc.identifier.citeulike3066975-

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