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Article: Copy number variations of chromosome 16p13.1 region associated with schizophrenia

TitleCopy number variations of chromosome 16p13.1 region associated with schizophrenia
Authors
Keywords16p13.1
CNV
duplication
schizophrenia
Issue Date2011
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/mp
Citation
Molecular Psychiatry, 2011, v. 16 n. 1, p. 17-25 How to Cite?
Abstract
Deletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35 079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P0.007) and deletions in 0.12 % of cases and 0.04% of controls (P0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia. © 2011 Macmillan Publishers Limited All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/141825
ISSN
2013 Impact Factor: 15.147
PubMed Central ID
ISI Accession Number ID
Funding AgencyGrant Number
EULSHM-CT-2006-037761
NIMHR01 MH078075
Funding Information:

We thank the participating subjects and their relatives, and staff at the recruitment centres. We thank David Goldstein for permission to use the genotype data from the Scottish samples typed at Duke University. This work was sponsored by EU grant LSHM-CT-2006-037761 (Project SGENE). Genotyping of the Dutch samples was sponsored by NIMH funding, R01 MH078075 (to RAO).

References

 

Author Affiliations
  1. Copenhagen University Hospital
  2. Ludwig-Maximilians-Universität München
  3. King's College London
  4. Universität Bonn
  5. Ulleval University Hospital
  6. University of Aberdeen School of Medicine
  7. GlaxoSmithKline
  8. UCLA Medical Center
  9. Universität Heidelberg
  10. Wellcome Trust Sanger Institute
  11. Kansanterveyslaitos
  12. Ravenscraig Hospital
  13. Universitetet i Oslo
  14. Radboud University Nijmegen Medical Centre
  15. University of California, Los Angeles
  16. National University Hospital
  17. Università degli Studi di Verona
  18. University Medical Center Utrecht
  19. Broad Institute
DC FieldValueLanguage
dc.contributor.authorIngason, Aen_HK
dc.contributor.authorRujescu, Den_HK
dc.contributor.authorCichon, Sen_HK
dc.contributor.authorSigurdsson, Een_HK
dc.contributor.authorSigmundsson, Ten_HK
dc.contributor.authorPietiläinen, OPHen_HK
dc.contributor.authorBuizerVoskamp, JEen_HK
dc.contributor.authorStrengman, Een_HK
dc.contributor.authorFrancks, Cen_HK
dc.contributor.authorMuglia, Pen_HK
dc.contributor.authorGylfason, Aen_HK
dc.contributor.authorGustafsson, Oen_HK
dc.contributor.authorOlason, PIen_HK
dc.contributor.authorSteinberg, Sen_HK
dc.contributor.authorHansen, Ten_HK
dc.contributor.authorJakobsen, KDen_HK
dc.contributor.authorRasmussen, HBen_HK
dc.contributor.authorGiegling, Ien_HK
dc.contributor.authorMöller, HJen_HK
dc.contributor.authorHartmann, Aen_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.authorBramon, Een_HK
dc.contributor.authorKiemeney, LAen_HK
dc.contributor.authorFranke, Ben_HK
dc.contributor.authorMurray, Ren_HK
dc.contributor.authorVassos, Een_HK
dc.contributor.authorToulopoulou, Ten_HK
dc.contributor.authorMühleisen, TWen_HK
dc.contributor.authorTosato, Sen_HK
dc.contributor.authorRuggeri, Men_HK
dc.contributor.authorDjurovic, Sen_HK
dc.contributor.authorAndreassen, OAen_HK
dc.contributor.authorZhang, Zen_HK
dc.contributor.authorWerge, Ten_HK
dc.contributor.authorOphoff, RAen_HK
dc.contributor.authorRietschel, Men_HK
dc.contributor.authorNöthen, MMen_HK
dc.contributor.authorPetursson, Hen_HK
dc.contributor.authorStefansson, Hen_HK
dc.contributor.authorPeltonen, Len_HK
dc.contributor.authorCollier, Den_HK
dc.contributor.authorStefansson, Ken_HK
dc.contributor.authorClair, DMSen_HK
dc.date.accessioned2011-09-27T03:02:41Z-
dc.date.available2011-09-27T03:02:41Z-
dc.date.issued2011en_HK
dc.identifier.citationMolecular Psychiatry, 2011, v. 16 n. 1, p. 17-25en_HK
dc.identifier.issn1359-4184en_HK
dc.identifier.urihttp://hdl.handle.net/10722/141825-
dc.description.abstractDeletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35 079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P0.007) and deletions in 0.12 % of cases and 0.04% of controls (P0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia. © 2011 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/mpen_HK
dc.relation.ispartofMolecular Psychiatryen_HK
dc.subject16p13.1en_HK
dc.subjectCNVen_HK
dc.subjectduplicationen_HK
dc.subjectschizophreniaen_HK
dc.titleCopy number variations of chromosome 16p13.1 region 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/mp.2009.101en_HK
dc.identifier.pmid19786961en_HK
dc.identifier.pmcidPMC3330746-
dc.identifier.scopuseid_2-s2.0-78650509787en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-78650509787&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume16en_HK
dc.identifier.issue1en_HK
dc.identifier.spage17en_HK
dc.identifier.epage25en_HK
dc.identifier.eissn1476-5578-
dc.identifier.isiWOS:000285546400004-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridIngason, A=22734427200en_HK
dc.identifier.scopusauthoridRujescu, D=6701768114en_HK
dc.identifier.scopusauthoridCichon, S=7005957855en_HK
dc.identifier.scopusauthoridSigurdsson, E=7004378235en_HK
dc.identifier.scopusauthoridSigmundsson, T=6602171613en_HK
dc.identifier.scopusauthoridPietiläinen, OPH=35262502200en_HK
dc.identifier.scopusauthoridBuizerVoskamp, JE=24780588900en_HK
dc.identifier.scopusauthoridStrengman, E=6506197520en_HK
dc.identifier.scopusauthoridFrancks, C=6603599497en_HK
dc.identifier.scopusauthoridMuglia, P=6602544336en_HK
dc.identifier.scopusauthoridGylfason, A=8121806200en_HK
dc.identifier.scopusauthoridGustafsson, O=26023239200en_HK
dc.identifier.scopusauthoridOlason, PI=35262614500en_HK
dc.identifier.scopusauthoridSteinberg, S=22735361200en_HK
dc.identifier.scopusauthoridHansen, T=7401667958en_HK
dc.identifier.scopusauthoridJakobsen, KD=8507542400en_HK
dc.identifier.scopusauthoridRasmussen, HB=21135869800en_HK
dc.identifier.scopusauthoridGiegling, I=6602186623en_HK
dc.identifier.scopusauthoridMöller, HJ=7401855577en_HK
dc.identifier.scopusauthoridHartmann, A=7402943568en_HK
dc.identifier.scopusauthoridCrombie, C=12240136900en_HK
dc.identifier.scopusauthoridFraser, G=34770971900en_HK
dc.identifier.scopusauthoridWalker, N=7201514664en_HK
dc.identifier.scopusauthoridLonnqvist, J=35234007300en_HK
dc.identifier.scopusauthoridSuvisaari, J=35238930800en_HK
dc.identifier.scopusauthoridTuulioHenriksson, A=35235635600en_HK
dc.identifier.scopusauthoridBramon, E=8089378900en_HK
dc.identifier.scopusauthoridKiemeney, LA=7005158534en_HK
dc.identifier.scopusauthoridFranke, B=7005326255en_HK
dc.identifier.scopusauthoridMurray, R=35406239400en_HK
dc.identifier.scopusauthoridVassos, E=35369293900en_HK
dc.identifier.scopusauthoridToulopoulou, T=8855468700en_HK
dc.identifier.scopusauthoridMühleisen, TW=35286025500en_HK
dc.identifier.scopusauthoridTosato, S=8672074400en_HK
dc.identifier.scopusauthoridRuggeri, M=7005660435en_HK
dc.identifier.scopusauthoridDjurovic, S=7003849042en_HK
dc.identifier.scopusauthoridAndreassen, OA=7005761947en_HK
dc.identifier.scopusauthoridZhang, Z=8619709300en_HK
dc.identifier.scopusauthoridWerge, T=6701738296en_HK
dc.identifier.scopusauthoridOphoff, RA=7004321340en_HK
dc.identifier.scopusauthoridRietschel, M=7006620620en_HK
dc.identifier.scopusauthoridNöthen, MM=35355123900en_HK
dc.identifier.scopusauthoridPetursson, H=7003947853en_HK
dc.identifier.scopusauthoridStefansson, H=6604083232en_HK
dc.identifier.scopusauthoridPeltonen, L=36051313500en_HK
dc.identifier.scopusauthoridCollier, D=26642980600en_HK
dc.identifier.scopusauthoridStefansson, K=7005997553en_HK
dc.identifier.scopusauthoridClair, DMS=7006864347en_HK
dc.identifier.citeulike5868894-

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