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

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

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

Affiliation

Rees E; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Kirov G; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Sanders A; 1] Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, IL, USA [2] Department of Psychiatry and Behavioral Sciences, University of Chicago, Chicago, IL, USA.
Walters JT; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Chambert KD; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA, USA.
Shi J; Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Szatkiewicz J; Department of Genetics, University of North Carolina, Chapel Hill, NC, USA.
O'Dushlaine C; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA, USA.
Richards AL; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Green EK; 1] MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK [2] School of Biomedical and Biological Sciences, Plymouth University, Plymouth, UK.
Jones I; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Davies G; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Legge SE; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Moran JL; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA, USA.
Pato C; Department of Psychiatry and Behavioral Science, Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA, USA.
Pato M; Department of Psychiatry and Behavioral Science, Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA, USA.
Genovese G; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA, USA.
Levinson D; Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
Duan J; 1] Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, IL, USA [2] Department of Psychiatry and Behavioral Sciences, University of Chicago, Chicago, IL, USA.
Moy W; Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, IL, USA.
Göring HH; Department of Genetics, Texas Biomedical Research Institute, San Antonio, TX, USA.
Morris D; Department of Psychiatry and Neuropsychiatric Genetics Research Group, Institute of Molecular Medicine, Trinity College Dublin, Dublin 2, Ireland.
Cormican P; Department of Psychiatry and Neuropsychiatric Genetics Research Group, Institute of Molecular Medicine, Trinity College Dublin, Dublin 2, Ireland.
Kendler KS; Department of Psychiatry and Human Genetics, Virginia Institute of Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA, USA.
O'Neill FA; Department of Psychiatry, Queen's University, Belfast, Northern Ireland.
Riley B; Department of Psychiatry and Human Genetics, Virginia Institute of Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA, USA.
Gill M; Department of Psychiatry and Neuropsychiatric Genetics Research Group, Institute of Molecular Medicine, Trinity College Dublin, Dublin 2, Ireland.
Corvin A; Department of Psychiatry and Neuropsychiatric Genetics Research Group, Institute of Molecular Medicine, Trinity College Dublin, Dublin 2, Ireland.
Craddock N; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Sklar P; Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Hultman C; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Karolinska, Sweden.
Sullivan PF; 1] Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA [2] Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden [3] Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Gejman PV; 1] Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, IL, USA [2] Department of Psychiatry and Behavioral Sciences, University of Chicago, Chicago, IL, USA.
McCarroll SA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA, USA.
O'Donovan MC; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Owen MJ; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.

Mol Psychiatry ; 19(1): 37-40, 2014 Jan.

Article in En | MEDLINE | ID: mdl-24217254

ABSTRACT

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.

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Schizophrenia / Abnormalities, Multiple / Genetic Predisposition to Disease / DiGeorge Syndrome / DNA Copy Number Variations / Chromosome Duplication Limits: Female / Humans / Male Language: En Journal: Mol Psychiatry Journal subject: BIOLOGIA MOLECULAR / PSIQUIATRIA Year: 2014 Document type: Article Affiliation country: Reino Unido

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