Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia

Grozeva, Detelina, Kirov, George, Ivanov, Dobril, Jones, Ian R., Jones, Lisa, Green, Elaine K., St Clair, David M., Young, Allan H., Ferrier, Nicol, Farmer, Anne E., McGuffin, Peter, Holmans, Peter A., Owen, Michael J., O'Donovan, Michael C., Craddock, Nick, Wellcome Trust Case Control Consortuim, Bradbury, Linda A., Pointon, Jennifer J. and Brown, Matthew A. (2010) Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. Archives of General Psychiatry, 67 4: 318-327. doi:10.1001/archgenpsychiatry.2010.25

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Author Grozeva, Detelina
Kirov, George
Ivanov, Dobril
Jones, Ian R.
Jones, Lisa
Green, Elaine K.
St Clair, David M.
Young, Allan H.
Ferrier, Nicol
Farmer, Anne E.
McGuffin, Peter
Holmans, Peter A.
Owen, Michael J.
O'Donovan, Michael C.
Craddock, Nick
Wellcome Trust Case Control Consortuim
Bradbury, Linda A.
Pointon, Jennifer J.
Brown, Matthew A.
Title Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia
Journal name Archives of General Psychiatry   Check publisher's open access policy
ISSN 0003-990X
Publication date 2010-04
Sub-type Article (original research)
DOI 10.1001/archgenpsychiatry.2010.25
Open Access Status File (Publisher version)
Volume 67
Issue 4
Start page 318
End page 327
Total pages 10
Place of publication Chicago, IL, United States
Publisher American Medical Association
Collection year 2011
Language eng
Formatted abstract
Contexts: Recent studies suggest that copy number variation in the human genome is extensive and may play an important role in susceptibility to disease, including neuropsychiatric disorders such as schizophrenia and autism. The possible involvement of copy number variants (CNVs) in bipolar disorder has received little attention to date.

Objectives: To determine whether large (> 100 000 base pairs) and rare (found in <1% ofthe population) CNVs are associated with susceptibility to bipolar disorder and to compare with findings in schizophrenia.

Design: A genome-wide survey of large, rare CNVs in a case-control sample using a high-density microarray. Setting: The Wellcome Trust Case Control Consortium.

Participants: There were 1697 cases of bipolar disorder and 2806 nonpsychiatric controls. All participants were white UK residents. Main Outcome Measures: Overall load of CNVs and presence of rare CNVs.

Results: The burden of CNVs in bipolar disorder was not increased compared with controls and was significantly less than in schizophrenia cases. The CNVs previously implicated in the etiology of schizophrenia were not more common in cases with bipolar disorder.

Conclusions: Schizophrenia and bipolar disorder differ with respect to CNV burden in general and association with specific CNVs in particular. Our data are consistent with the possibility that possession of large, rare deletions may modify the phenotype in those at risk of psychosis: those possessing such events are more likely to be diagnosed as having schizophrenia, and those without them are more likely to be diagnosed as having bipolar disorder.
© 2010 American Medical Association. All rights reserved.
Keyword Bipolar disorder
Copy number variant
Genetic risk
Q-Index Code CX
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
ERA White List Items
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 107 times in Thomson Reuters Web of Science Article | Citations
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Created: Fri, 25 Mar 2011, 15:25:14 EST by Kylie Hengst on behalf of UQ Diamantina Institute