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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, A1
Rujescu, D2
Cichon, S4
Sigurdsson, E16
Sigmundsson, T16
Pietiläinen, OPH11
BuizerVoskamp, JE18
Strengman, E18
Francks, C7
Muglia, P7
Gylfason, A
Gustafsson, O
Olason, PI
Steinberg, S
Hansen, T1
Jakobsen, KD1
Rasmussen, HB1
Giegling, I2
Möller, HJ2
Hartmann, A2
Crombie, C6
Fraser, G6
Walker, N12
Lonnqvist, J11
Suvisaari, J11
TuulioHenriksson, A11
Bramon, E3
Kiemeney, LA14
Franke, B14
Murray, R3
Vassos, E3
Toulopoulou, T3
Mühleisen, TW4
Tosato, S17
Ruggeri, M17
Djurovic, S13 5
Andreassen, OA13 5
Zhang, Z15
Werge, T1
Ophoff, RA8 18
Rietschel, M9
Nöthen, MM4
Petursson, H16
Stefansson, H
Peltonen, L19 11 10
Collier, D3
Stefansson, K
Clair, DMS6
 
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
2012 Impact Factor: 14.897
2012 SCImago Journal Rankings: 5.117
 
DOIhttp://dx.doi.org/10.1038/mp.2009.101
 
PubMed Central IDPMC3330746
 
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).

 
ReferencesReferences in Scopus
 
DC FieldValue
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
2012 Impact Factor: 14.897
2012 SCImago Journal Rankings: 5.117
 
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
 
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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