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

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TitleCopy number variations of chromosome 16p13.1 region associated with schizophrenia
AuthorsIngason, A4
Rujescu, D1
Cichon, S3
Sigurdsson, E17
Sigmundsson, T17
Pietiläinen, OPH9
BuizerVoskamp, JE19
Strengman, E19
Francks, C6
Muglia, P6
Gylfason, A
Gustafsson, O
Olason, PI
Steinberg, S
Hansen, T4
Jakobsen, KD4
Rasmussen, HB4
Giegling, I1
Möller, HJ1
Hartmann, A1
Crombie, C7
Fraser, G7
Walker, N12
Lonnqvist, J9
Suvisaari, J9
TuulioHenriksson, A9
Bramon, E2
Kiemeney, LA14
Franke, B14
Murray, R2
Vassos, E2
Toulopoulou, T2
Mühleisen, TW3
Tosato, S18
Ruggeri, M18
Djurovic, S5 13
Andreassen, OA5 13
Zhang, Z15
Werge, T4
Ophoff, RA8 19
Rietschel, M11
Nöthen, MM3
Petursson, H17
Stefansson, H
Peltonen, L9 10 16
Collier, D2
Stefansson, K
Clair, DMS7
Keywords16p13.1
CNV
duplication
schizophrenia
Issue Date2011
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/mp
CitationMolecular Psychiatry, 2011, v. 16 n. 1, p. 17-25 [How to Cite?]
DOI: http://dx.doi.org/10.1038/mp.2009.101
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.
ISSN1359-4184
2011 Impact Factor: 13.668
2011 SCImago Journal Rankings: 0.843
DOIhttp://dx.doi.org/10.1038/mp.2009.101
ISI Accession Number IDWOS:000285546400004
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).

PubMed Central IDPMC3330746
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorIngason, A
dc.contributor.authorRujescu, D
dc.contributor.authorCichon, S
dc.contributor.authorSigurdsson, E
dc.contributor.authorSigmundsson, T
dc.contributor.authorPietiläinen, OPH
dc.contributor.authorBuizerVoskamp, JE
dc.contributor.authorStrengman, E
dc.contributor.authorFrancks, C
dc.contributor.authorMuglia, P
dc.contributor.authorGylfason, A
dc.contributor.authorGustafsson, O
dc.contributor.authorOlason, PI
dc.contributor.authorSteinberg, S
dc.contributor.authorHansen, T
dc.contributor.authorJakobsen, KD
dc.contributor.authorRasmussen, HB
dc.contributor.authorGiegling, I
dc.contributor.authorMöller, HJ
dc.contributor.authorHartmann, A
dc.contributor.authorCrombie, C
dc.contributor.authorFraser, G
dc.contributor.authorWalker, N
dc.contributor.authorLonnqvist, J
dc.contributor.authorSuvisaari, J
dc.contributor.authorTuulioHenriksson, A
dc.contributor.authorBramon, E
dc.contributor.authorKiemeney, LA
dc.contributor.authorFranke, B
dc.contributor.authorMurray, R
dc.contributor.authorVassos, E
dc.contributor.authorToulopoulou, T
dc.contributor.authorMühleisen, TW
dc.contributor.authorTosato, S
dc.contributor.authorRuggeri, M
dc.contributor.authorDjurovic, S
dc.contributor.authorAndreassen, OA
dc.contributor.authorZhang, Z
dc.contributor.authorWerge, T
dc.contributor.authorOphoff, RA
dc.contributor.authorRietschel, M
dc.contributor.authorNöthen, MM
dc.contributor.authorPetursson, H
dc.contributor.authorStefansson, H
dc.contributor.authorPeltonen, L
dc.contributor.authorCollier, D
dc.contributor.authorStefansson, K
dc.contributor.authorClair, DMS
dc.date.accessioned2011-09-27T03:02:41Z
dc.date.available2011-09-27T03:02:41Z
dc.date.issued2011
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.
dc.description.naturelink_to_subscribed_fulltext
dc.identifier.citationMolecular Psychiatry, 2011, v. 16 n. 1, p. 17-25 [How to Cite?]
DOI: http://dx.doi.org/10.1038/mp.2009.101
dc.identifier.citeulike5868894
dc.identifier.doihttp://dx.doi.org/10.1038/mp.2009.101
dc.identifier.eissn1476-5578
dc.identifier.epage25
dc.identifier.isiWOS:000285546400004
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).

dc.identifier.issn1359-4184
2011 Impact Factor: 13.668
2011 SCImago Journal Rankings: 0.843
dc.identifier.issue1
dc.identifier.pmcidPMC3330746
dc.identifier.pmid19786961
dc.identifier.scopuseid_2-s2.0-78650509787
dc.identifier.spage17
dc.identifier.urihttp://hdl.handle.net/10722/141825
dc.identifier.volume16
dc.languageeng
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/mp
dc.publisher.placeUnited Kingdom
dc.relation.ispartofMolecular Psychiatry
dc.relation.referencesReferences in Scopus
dc.subject16p13.1
dc.subjectCNV
dc.subjectduplication
dc.subjectschizophrenia
dc.titleCopy number variations of chromosome 16p13.1 region associated with schizophrenia
dc.typeArticle
Author Affiliations
  1. Ludwig-Maximilians-Universität München
  2. King's College London
  3. Universität Bonn
  4. Copenhagen University Hospital
  5. Ulleval University Hospital
  6. GlaxoSmithKline
  7. University of Aberdeen School of Medicine
  8. UCLA Medical Center
  9. Kansanterveyslaitos
  10. Wellcome Trust Sanger Institute
  11. Universität Heidelberg
  12. Ravenscraig Hospital
  13. Universitetet i Oslo
  14. Radboud University Nijmegen Medical Centre
  15. University of California, Los Angeles
  16. Broad Institute
  17. National University Hospital
  18. Università degli Studi di Verona
  19. University Medical Center Utrecht