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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.
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
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 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 Type: Article
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Full text: 1 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 Type: Article