Microduplications of 16p11.2 are associated with schizophrenia
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Mc Carthy, Shane E, et al. Microduplications of 16p11.2 Are Associated with Schizophrenia. 2009. https://doi.org/10.17615/wh1e-q194APA
Mc Carthy, S., Makarov, V., Kirov, G., Addington, A., Mc Clellan, J., Yoon, S., Perkins, D., Dickel, D., Kusenda, M., Krastoshevsky, O., Krause, V., Kumar, R., Grozeva, D., Malhotra, D., Walsh, T., Zackai, E., Kaplan, P., Ganesh, J., Krantz, I., Spinner, N., Roccanova, P., Bhandari, A., Pavon, K., Lakshmi, B., Leotta, A., Kendall, J., Lee, Y., Vacic, V., Gary, S., Iakoucheva, L., Crow, T., Christian, S., Lieberman, J., Stroup, T., Lehtimäki, T., Puura, K., Haldeman Englert, C., Pearl, J., Goodell, M., Willour, V., De Rosse, P., Steele, J., Kassem, L., Wolff, J., Chitkara, N., Mc Mahon, F., Malhotra, A., Potash, J., Schulze, T., Nöthen, M., Cichon, S., Rietschel, M., Leibenluft, E., Kustanovich, V., Lajonchere, C., Sutcliffe, J., Skuse, D., Gill, M., Gallagher, L., Mendell, N., Trust Case Control Consortium, W., Craddock, N., Owen, M., O’donovan, M., Shaikh, T., Susser, E., De Lisi, L., Sullivan, P., Deutsch, C., Rapoport, J., Levy, D., King, M., & Sebat, J. (2009). Microduplications of 16p11.2 are associated with schizophrenia. https://doi.org/10.17615/wh1e-q194Chicago
Mc Carthy, Shane E., Vladimir Makarov, George Kirov, Anjene M Addington, Jon Mc Clellan, Seungtai Yoon, Diana Perkins et al. 2009. Microduplications of 16p11.2 Are Associated with Schizophrenia. https://doi.org/10.17615/wh1e-q194- Creator
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McCarthy, Shane E.
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
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Makarov, Vladimir
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
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Kirov, George
- Other Affiliation: Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
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Addington, Anjene M.
- Other Affiliation: Child Psychiatry Branch, National Institute for Mental Health, National Institutes of Health, Bethesda, Maryland, USA
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McClellan, Jon
- Other Affiliation: Department of Psychiatry, University of Washington, Seattle, Washington, USA
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Yoon, Seungtai
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
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Perkins, Diana
- Affiliation: School of Medicine, Department of Psychiatry
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Dickel, Diane E.
- Other Affiliation: Department of Genome Sciences, University of Washington, Seattle, Washington, USA
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Kusenda, Mary
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA; Graduate Program in Genetics State University of New York, Stony Brook, New York, USA
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Krastoshevsky, Olga
- Other Affiliation: Psychology Research Laboratory, McLean Hospital, Belmont, Massachusetts, USA
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Krause, Verena
- Other Affiliation: Psychology Research Laboratory, McLean Hospital, Belmont, Massachusetts, USA
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Kumar, Ravinesh A.
- Other Affiliation: Department of Human Genetics, University of Chicago, Chicago, Illinois, USA
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Grozeva, Detelina
- Other Affiliation: Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
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Malhotra, Dheeraj
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
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Walsh, Tom
- Other Affiliation: Department of Genome Sciences, University of Washington, Seattle, Washington, USA
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Zackai, Elaine H.
- Other Affiliation: Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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Kaplan, Paige
- Other Affiliation: Section of Biochemical Genetics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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Ganesh, Jaya
- Other Affiliation: Section of Biochemical Genetics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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Krantz, Ian D.
- Other Affiliation: Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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Spinner, Nancy B.
- Other Affiliation: Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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Roccanova, Patricia
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
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Bhandari, Abhishek
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
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Pavon, Kevin
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
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Lakshmi, B.
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA; Ontario Institute for Cancer Research, Toronto, Ontario, Canada
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Leotta, Anthony
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
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Kendall, Jude
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
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Lee, Yoon-ha
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
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Vacic, Vladimir
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
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Gary, Sydney
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
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Iakoucheva, Lilia M
- Other Affiliation: Laboratory of Statistical Genetics, The Rockefeller University, New York, USA
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Crow, Timothy J.
- Other Affiliation: The Prince of Wales International Center for SANE Research, Warneford Hospital, Oxford, UK
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Christian, Susan L.
- Other Affiliation: Department of Human Genetics, University of Chicago, Chicago, Illinois, USA
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Lieberman, Jeffrey A.
- Other Affiliation: College of Physicians and Surgeons of Columbia University, Columbia University, New York, USA; New York State Psychiatric Hospital, New York, New York, USA
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Stroup, T. Scott
- Other Affiliation: College of Physicians and Surgeons of Columbia University, Columbia University, New York, USA
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Lehtimäki, Terho
- Other Affiliation: Department of Clinical Chemistry, Tampere University and University Hospital, Tampere, Finland
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Puura, Kaija
- Other Affiliation: Department of Child Psychiatry, Tampere University and University Hospital, Tampere, Finland
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Haldeman-Englert, Chad
- Other Affiliation: Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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Pearl, Justin
- Other Affiliation: Genetic Basis of Mood and Anxiety Disorders Unit, National Institute for Mental Health, National Institutes of Health, Bethesda, Maryland, USA
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Goodell, Meredith
- Other Affiliation: Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
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Willour, Virginia L.
- Other Affiliation: Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
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DeRosse, Pamela
- Other Affiliation: Department of Psychiatry Research, The Zucker Hillside Hospital, Glen Oaks, New York, USA
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Steele, Jo
- Other Affiliation: Genetic Basis of Mood and Anxiety Disorders Unit, National Institute for Mental Health, National Institutes of Health, Bethesda, Maryland, USA
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Kassem, Layla
- Other Affiliation: Genetic Basis of Mood and Anxiety Disorders Unit, National Institute for Mental Health, National Institutes of Health, Bethesda, Maryland, USA
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Wolff, Jessica
- Other Affiliation: Genetic Basis of Mood and Anxiety Disorders Unit, National Institute for Mental Health, National Institutes of Health, Bethesda, Maryland, USA
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Chitkara, Nisha
- Other Affiliation: Department of Psychiatry Research, The Zucker Hillside Hospital, Glen Oaks, New York, USA
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McMahon, Francis J.
- Other Affiliation: Genetic Basis of Mood and Anxiety Disorders Unit, National Institute for Mental Health, National Institutes of Health, Bethesda, Maryland, USA
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Malhotra, Anil K.
- Other Affiliation: Department of Psychiatry Research, The Zucker Hillside Hospital, Glen Oaks, New York, USA
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Potash, James B.
- Other Affiliation: Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
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Schulze, Thomas G.
- Other Affiliation: Genetic Basis of Mood and Anxiety Disorders Unit, National Institute for Mental Health, National Institutes of Health, Bethesda, Maryland, USA; Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, University of Heidelberg, Mannheim, Germany
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Nöthen, Markus M.
- Other Affiliation: Department of Genomics, Life and Brain Center, Institute of Human Genetics, University of Bonn, Germany
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Cichon, Sven
- Other Affiliation: Department of Genomics, Life and Brain Center, Institute of Human Genetics, University of Bonn, Germany
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Rietschel, Marcella
- Other Affiliation: Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, University of Heidelberg, Mannheim, Germany; Department of Psychiatry and Psychotherapy, University of Bonn, Germany
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Leibenluft, Ellen
- Other Affiliation: Mood and Anxiety Disorders Program, National Institute for Mental Health, National Institutes of Health, Bethesda, Maryland, USA
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Kustanovich, Vlad
- Other Affiliation: Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, USA
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Lajonchere, Clara M.
- Other Affiliation: Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, USA
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Sutcliffe, James S.
- Other Affiliation: Center for Molecular Neuroscience, Vanderbilt University, Nashville, Tennessee, USA
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Skuse, David
- Other Affiliation: Behavioral Sciences Unit, Institute of Child Health University College London, London, UK
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Gill, Michael
- Other Affiliation: Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland
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Gallagher, Louise
- Other Affiliation: Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland
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Mendell, Nancy R.
- Other Affiliation: Department of Applied Mathematics and Statistics, State University of New York, Stony Brook, New York. USA
- Wellcome Trust Case Control Consortium
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Craddock, Nick
- Other Affiliation: Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
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Owen, Michael J.
- Other Affiliation: Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
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O’Donovan, Michael C.
- Other Affiliation: Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
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Shaikh, Tamim H.
- Other Affiliation: Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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Susser, Ezra
- Other Affiliation: College of Physicians and Surgeons of Columbia University, Columbia University, New York, USA
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DeLisi, Lynn E.
- Other Affiliation: "Department of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA; VA Boston Healthcare System, Brockton, Massachusetts, USA"
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Sullivan, Patrick
- Affiliation: School of Medicine, Department of Genetics
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Deutsch, Curtis K.
- Other Affiliation: Department of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA; VA Boston Healthcare System, Brockton, Massachusetts, USA; Eunice Kennedy Shriver Center, University of Massachusetts Medical School, Waltham, Massachusetts, USA
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Rapoport, Judith
- Other Affiliation: Child Psychiatry Branch, National Institute for Mental Health, National Institutes of Health, Bethesda, Maryland, USA
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Levy, Deborah L.
- Other Affiliation: Psychology Research Laboratory, McLean Hospital, Belmont, Massachusetts, USA; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA
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King, Mary-Claire
- Other Affiliation: Department of Genome Sciences, University of Washington, Seattle, Washington, USA
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Sebat, Jonathan
- Other Affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
- Abstract
- Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental disorders1,2,3. We report the association of 16p11.2 microduplications with schizophrenia in two large cohorts. The microduplication was detected in 12/1,906 (0.63%) cases and 1/3,971 (0.03%) controls (P = 1.2 × 10−5, OR = 25.8) from the initial cohort, and in 9/2,645 (0.34%) cases and 1/2,420 (0.04%) controls (P = 0.022, OR = 8.3) of the replication cohort. The 16p11.2 microduplication was associated with a 14.5-fold increased risk of schizophrenia (95% CI (3.3, 62)) in the combined sample. A meta-analysis of datasets for multiple psychiatric disorders showed a significant association of the microduplication with schizophrenia (P = 4.8 × 10−7), bipolar disorder (P = 0.017) and autism (P = 1.9 × 10−7). In contrast, the reciprocal microdeletion was associated only with autism and developmental disorders (P = 2.3 × 10−13). Head circumference was larger in patients with the microdeletion than in patients with the microduplication (P = 0.0007).
- Date of publication
- 2009
- DOI
- Identifier
- https://doi.org/10.1038/ng.474
- 2-s2.0-70350626873
- Related resource URL
- Resource type
- Article
- Rights statement
- In Copyright
- Journal title
- Nature Genetics
- Journal volume
- 41
- Journal issue
- 11
- Page start
- 1223
- Page end
- 1227
- Language
- English
- Version
- Postprint
- ISSN
- 1061-4036
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