Novel CAG/CTG repeat expansion mutations do not contribute to the genetic risk for most cases of bipolar disorder or schizophrenia

Authors

  • T. Tsutsumi,

    1. Division of Neurobiology, Department of Psychiatry, Johns Hopkins University of School of Medicine, Baltimore, Maryland
    Current affiliation:
    1. Oita Medical University, Hasama-machi, Oita, 879-5593, Japan.
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  • S.E. Holmes,

    1. Division of Neurobiology, Department of Psychiatry, Johns Hopkins University of School of Medicine, Baltimore, Maryland
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  • M.G. McInnis,

    1. Division of Psychiatric Genetics, Department of Psychiatry, Johns Hopkins University of School of Medicine, Baltimore, Maryland
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  • A. Sawa,

    1. Division of Neurobiology, Department of Psychiatry, Johns Hopkins University of School of Medicine, Baltimore, Maryland
    2. Department of Neuroscience, Johns Hopkins University of School of Medicine, Baltimore, Maryland
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  • C. Callahan,

    1. Division of Neurobiology, Department of Psychiatry, Johns Hopkins University of School of Medicine, Baltimore, Maryland
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  • J.R. DePaulo,

    1. Division of Psychiatric Genetics, Department of Psychiatry, Johns Hopkins University of School of Medicine, Baltimore, Maryland
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  • C.A. Ross,

    1. Division of Neurobiology, Department of Psychiatry, Johns Hopkins University of School of Medicine, Baltimore, Maryland
    2. Division of Psychiatric Genetics, Department of Psychiatry, Johns Hopkins University of School of Medicine, Baltimore, Maryland
    3. Program of Cellular and Molecular Medicine, Johns Hopkins University of School of Medicine, Baltimore, Maryland
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  • L.E. DeLisi,

    1. Department of Psychiatry, New York University, New York, New York
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  • R.L. Margolis

    Corresponding author
    1. Division of Neurobiology, Department of Psychiatry, Johns Hopkins University of School of Medicine, Baltimore, Maryland
    2. Program of Cellular and Molecular Medicine, Johns Hopkins University of School of Medicine, Baltimore, Maryland
    • Meyer 2-181, 600 N. Wolfe Street, Baltimore, MD, 21287.
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  • The experimental work reported in this article was performed at Johns Hopkins University.

Abstract

The possible presence of anticipation in bipolar affective disorder and schizophrenia has led to the hypothesis that repeat expansion mutations could contribute to the genetic etiology of these diseases. Using the repeat expansion detection (RED) assay, we have systematically examined genomic DNA from 100 unrelated probands with schizophrenia and 68 unrelated probands with bipolar affective disorder for the presence of CAG/CTG repeat expansions. Our results show that 28% of the probands with schizophrenia and 30% of probands with bipolar disorder have a CAG/CTG repeat in the expanded range, but that each expansion could be explained by one of three nonpathogenic repeat expansions known to exist in the general population. We conclude that novel CAG/CTG repeat expansions are not a common genetic risk factor for bipolar disorder or schizophrenia.© 2003 Wiley-Liss, Inc.

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