Evidence that duplications of 22q11.2 protect against schizophrenia

E. Rees; G. Kirov; A. Sanders; J. T.R. Walters; K. D. Chambert; J. Shi; J. Szatkiewicz; C. O'Dushlaine; A. L. Richards; E. K. Green; I. Jones; G. Davies; S. E. Legge; J. L. Moran; C. Pato; M. Pato; G. Genovese; D. Levinson; J. Duan; W. Moy; H. H.H. Göring; D. Morris; P. Cormican; K. S. Kendler; F. A. O'Neill; B. Riley; M. Gill; A. Corvin; N. Craddock; P. Sklar; C. Hultman; P. F. Sullivan; P. V. Gejman; S. A. McCarroll; M. C. O'Donovan; M. J. Owen

doi:10.1038/mp.2013.156

Evidence that duplications of 22q11.2 protect against schizophrenia

E. Rees
, G. Kirov
, A. Sanders
, J. T.R. Walters
, K. D. Chambert
, J. Shi
, J. Szatkiewicz
, C. O'Dushlaine
, A. L. Richards
, E. K. Green
, I. Jones
, G. Davies
, S. E. Legge
, J. L. Moran
, C. Pato
, M. Pato
, G. Genovese
, D. Levinson
, J. Duan
, W. Moy

H. H.H. Göring, D. Morris, P. Cormican, K. S. Kendler, F. A. O'Neill, B. Riley, M. Gill, A. Corvin, N. Craddock, P. Sklar, C. Hultman, P. F. Sullivan, P. V. Gejman, S. A. McCarroll, M. C. O'Donovan, M. J. Owen

Research output: Contribution to a Journal (Peer & Non Peer) › Article › peer-review

115 Citations (Scopus)

Abstract

A number of large, rare copy number variants (CNVs) are deleterious for neurodevelopmental disorders, but large, rare, protective CNVs have not been reported for such phenotypes. Here we show in a CNV analysis of 47 005 individuals, the largest CNV analysis of schizophrenia to date, that large duplications (1.5-3.0 Mb) at 22q11.2 - the reciprocal of the well-known, risk-inducing deletion of this locus - are substantially less common in schizophrenia cases than in the general population (0.014% vs 0.085%, OR=0.17, P=0.00086). 22q11.2 duplications represent the first putative protective mutation for schizophrenia.

Original language	English
Pages (from-to)	37-40
Number of pages	4
Journal	Molecular Psychiatry
Volume	19
Issue number	1
DOIs	https://doi.org/10.1038/mp.2013.156
Publication status	Published - Jan 2014
Externally published	Yes

Keywords

22q11.2
CNV
duplication
protective
schizophrenia

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10.1038/mp.2013.156

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Rees, E., Kirov, G., Sanders, A., Walters, J. T. R., Chambert, K. D., Shi, J., Szatkiewicz, J., O'Dushlaine, C., Richards, A. L., Green, E. K., Jones, I., Davies, G., Legge, S. E., Moran, J. L., Pato, C., Pato, M., Genovese, G., Levinson, D., Duan, J., ... Owen, M. J. (2014). Evidence that duplications of 22q11.2 protect against schizophrenia. Molecular Psychiatry, 19(1), 37-40. https://doi.org/10.1038/mp.2013.156

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title = "Evidence that duplications of 22q11.2 protect against schizophrenia",

abstract = "A number of large, rare copy number variants (CNVs) are deleterious for neurodevelopmental disorders, but large, rare, protective CNVs have not been reported for such phenotypes. Here we show in a CNV analysis of 47 005 individuals, the largest CNV analysis of schizophrenia to date, that large duplications (1.5-3.0 Mb) at 22q11.2 - the reciprocal of the well-known, risk-inducing deletion of this locus - are substantially less common in schizophrenia cases than in the general population (0.014\% vs 0.085\%, OR=0.17, P=0.00086). 22q11.2 duplications represent the first putative protective mutation for schizophrenia.",

keywords = "22q11.2, CNV, duplication, protective, schizophrenia",

author = "E. Rees and G. Kirov and A. Sanders and Walters, \{J. T.R.\} and Chambert, \{K. D.\} and J. Shi and J. Szatkiewicz and C. O'Dushlaine and Richards, \{A. L.\} and Green, \{E. K.\} and I. Jones and G. Davies and Legge, \{S. E.\} and Moran, \{J. L.\} and C. Pato and M. Pato and G. Genovese and D. Levinson and J. Duan and W. Moy and G{\"o}ring, \{H. H.H.\} and D. Morris and P. Cormican and Kendler, \{K. S.\} and O'Neill, \{F. A.\} and B. Riley and M. Gill and A. Corvin and N. Craddock and P. Sklar and C. Hultman and Sullivan, \{P. F.\} and Gejman, \{P. V.\} and McCarroll, \{S. A.\} and O'Donovan, \{M. C.\} and Owen, \{M. J.\}",

year = "2014",

month = jan,

doi = "10.1038/mp.2013.156",

language = "English",

volume = "19",

pages = "37--40",

journal = "Molecular Psychiatry",

issn = "1359-4184",

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Rees, E, Kirov, G, Sanders, A, Walters, JTR, Chambert, KD, Shi, J, Szatkiewicz, J, O'Dushlaine, C, Richards, AL, Green, EK, Jones, I, Davies, G, Legge, SE, Moran, JL, Pato, C, Pato, M, Genovese, G, Levinson, D, Duan, J, Moy, W, Göring, HHH, Morris, D, Cormican, P, Kendler, KS, O'Neill, FA, Riley, B, Gill, M, Corvin, A, Craddock, N, Sklar, P, Hultman, C, Sullivan, PF, Gejman, PV, McCarroll, SA, O'Donovan, MC & Owen, MJ 2014, 'Evidence that duplications of 22q11.2 protect against schizophrenia', Molecular Psychiatry, vol. 19, no. 1, pp. 37-40. https://doi.org/10.1038/mp.2013.156

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T1 - Evidence that duplications of 22q11.2 protect against schizophrenia

AU - Rees, E.

AU - Kirov, G.

AU - Sanders, A.

AU - Walters, J. T.R.

AU - Chambert, K. D.

AU - Shi, J.

AU - Szatkiewicz, J.

AU - O'Dushlaine, C.

AU - Richards, A. L.

AU - Green, E. K.

AU - Jones, I.

AU - Davies, G.

AU - Legge, S. E.

AU - Moran, J. L.

AU - Pato, C.

AU - Pato, M.

AU - Genovese, G.

AU - Levinson, D.

AU - Duan, J.

AU - Moy, W.

AU - Göring, H. H.H.

AU - Morris, D.

AU - Cormican, P.

AU - Kendler, K. S.

AU - O'Neill, F. A.

AU - Riley, B.

AU - Gill, M.

AU - Corvin, A.

AU - Craddock, N.

AU - Sklar, P.

AU - Hultman, C.

AU - Sullivan, P. F.

AU - Gejman, P. V.

AU - McCarroll, S. A.

AU - O'Donovan, M. C.

AU - Owen, M. J.

PY - 2014/1

Y1 - 2014/1

N2 - A number of large, rare copy number variants (CNVs) are deleterious for neurodevelopmental disorders, but large, rare, protective CNVs have not been reported for such phenotypes. Here we show in a CNV analysis of 47 005 individuals, the largest CNV analysis of schizophrenia to date, that large duplications (1.5-3.0 Mb) at 22q11.2 - the reciprocal of the well-known, risk-inducing deletion of this locus - are substantially less common in schizophrenia cases than in the general population (0.014% vs 0.085%, OR=0.17, P=0.00086). 22q11.2 duplications represent the first putative protective mutation for schizophrenia.

AB - A number of large, rare copy number variants (CNVs) are deleterious for neurodevelopmental disorders, but large, rare, protective CNVs have not been reported for such phenotypes. Here we show in a CNV analysis of 47 005 individuals, the largest CNV analysis of schizophrenia to date, that large duplications (1.5-3.0 Mb) at 22q11.2 - the reciprocal of the well-known, risk-inducing deletion of this locus - are substantially less common in schizophrenia cases than in the general population (0.014% vs 0.085%, OR=0.17, P=0.00086). 22q11.2 duplications represent the first putative protective mutation for schizophrenia.

KW - 22q11.2

KW - CNV

KW - duplication

KW - protective

KW - schizophrenia

UR - https://www.scopus.com/pages/publications/84891142540

U2 - 10.1038/mp.2013.156

DO - 10.1038/mp.2013.156

M3 - Article

C2 - 24217254

AN - SCOPUS:84891142540

SN - 1359-4184

VL - 19

SP - 37

EP - 40

JO - Molecular Psychiatry

JF - Molecular Psychiatry

IS - 1

ER -

Evidence that duplications of 22q11.2 protect against schizophrenia

Abstract

Keywords

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