Rare Copy Number Variants A Point of Rarity in Genetic Risk for Bipolar Disorder and Schizophrenia

D. Grozeva; G. Kirov; D. Ivanov; I. R. Jones; L. Jones; E. K. Green; D. M. St Clair; Allan. H Young; N. Ferrier; A. E. Farmer; P. McGuffin; P. A. Holmans; M. J. Owen; M. C. O'Donovan; N. Craddock; Wellcome Trust Case Control Consortium

doi:10.1001/archgenpsychiatry.2010.25

Rare Copy Number Variants A Point of Rarity in Genetic Risk for Bipolar Disorder and Schizophrenia

D. Grozeva, G. Kirov, D. Ivanov, I. R. Jones, L. Jones, E. K. Green, D. M. St Clair, Allan. H Young, N. Ferrier, A. E. Farmer, P. McGuffin, P. A. Holmans, M. J. Owen, M. C. O'Donovan, N. Craddock, Wellcome Trust Case Control Consortium

Research output: Contribution to journal › Article › peer-review

158 Citations (Scopus)

Abstract

Context: Recent studies suggest that 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.

Original language	English
Pages (from-to)	318-327
Number of pages	10
Journal	JAMA Psychiatry
Volume	67
Issue number	4
DOIs	https://doi.org/10.1001/archgenpsychiatry.2010.25
Publication status	Published - Apr 2010

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Grozeva, D., Kirov, G., Ivanov, D., Jones, I. R., Jones, L., Green, E. K., St Clair, D. M., Young, A. H., Ferrier, N., Farmer, A. E., McGuffin, P., Holmans, P. A., Owen, M. J., O'Donovan, M. C., Craddock, N., & Wellcome Trust Case Control Consortium (2010). Rare Copy Number Variants A Point of Rarity in Genetic Risk for Bipolar Disorder and Schizophrenia. JAMA Psychiatry, 67(4), 318-327. https://doi.org/10.1001/archgenpsychiatry.2010.25

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title = "Rare Copy Number Variants A Point of Rarity in Genetic Risk for Bipolar Disorder and Schizophrenia",

abstract = "Context: Recent studies suggest that 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.",

author = "D. Grozeva and G. Kirov and D. Ivanov and Jones, {I. R.} and L. Jones and Green, {E. K.} and {St Clair}, {D. M.} and Young, {Allan. H} and N. Ferrier and Farmer, {A. E.} and P. McGuffin and Holmans, {P. A.} and Owen, {M. J.} and O'Donovan, {M. C.} and N. Craddock and {Wellcome Trust Case Control Consortium} and Gerome Breen",

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Grozeva, D, Kirov, G, Ivanov, D, Jones, IR, Jones, L, Green, EK, St Clair, DM, Young, AH, Ferrier, N, Farmer, AE , McGuffin, P, Holmans, PA, Owen, MJ, O'Donovan, MC, Craddock, N & Wellcome Trust Case Control Consortium 2010, 'Rare Copy Number Variants A Point of Rarity in Genetic Risk for Bipolar Disorder and Schizophrenia', JAMA Psychiatry, vol. 67, no. 4, pp. 318-327. https://doi.org/10.1001/archgenpsychiatry.2010.25

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T1 - Rare Copy Number Variants A Point of Rarity in Genetic Risk for Bipolar Disorder and Schizophrenia

AU - Grozeva, D.

AU - Kirov, G.

AU - Ivanov, D.

AU - Jones, I. R.

AU - Jones, L.

AU - Green, E. K.

AU - St Clair, D. M.

AU - Young, Allan. H

AU - Ferrier, N.

AU - Farmer, A. E.

AU - McGuffin, P.

AU - Holmans, P. A.

AU - Owen, M. J.

AU - O'Donovan, M. C.

AU - Craddock, N.

AU - Wellcome Trust Case Control Consortium

AU - Breen, Gerome

N1 - Times Cited: 0

PY - 2010/4

Y1 - 2010/4

N2 - Context: Recent studies suggest that 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.

AB - Context: Recent studies suggest that 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.

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JO - JAMA Psychiatry

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Rare Copy Number Variants A Point of Rarity in Genetic Risk for Bipolar Disorder and Schizophrenia

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