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; Wellcome Trust Case Control Consortium; 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, Wellcome Trust Case Control Consortium, 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 journal › Article › peer-review

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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
Early online date	12 Nov 2013
DOIs	https://doi.org/10.1038/mp.2013.156
Publication status	Published - Jan 2014

ASJC Scopus subject areas

Molecular Biology
Psychiatry and Mental health
Cellular and Molecular Neuroscience

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/mp.2013.156

Evidence that duplications of 22q11.2 protect against schizophrenia
© 2014 The Authors This work is licensed under a Creative Commons Attribution 3.0 Unported License. To view a copy of this license, visit http:// creativecommons.org/licenses/by/3.0/
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Francis O'Neill
- tony.oneillqub.acuk
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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, 37-40. https://doi.org/10.1038/mp.2013.156

@article{6975b1c83acb45b3a38287c91cb6fe08,

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.",

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 \{Wellcome Trust Case Control Consortium\} 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, Wellcome Trust Case Control Consortium, 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, pp. 37-40. https://doi.org/10.1038/mp.2013.156

TY - JOUR

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 - Wellcome Trust Case Control Consortium

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.

U2 - 10.1038/mp.2013.156

DO - 10.1038/mp.2013.156

M3 - Article

C2 - 24217254

SN - 1359-4184

VL - 19

SP - 37

EP - 40

JO - Molecular Psychiatry

JF - Molecular Psychiatry

ER -

Evidence that duplications of 22q11.2 protect against schizophrenia

Abstract

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Francis O'Neill

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