Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome

Authors

  • Jacob A.S. Vorstman,

    Corresponding author
    1. Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands
    • Heidelberglaan 100, Utrecht 3584CX, The Netherlands.
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  • Eva W. Chow,

    1. Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    2. Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
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  • Roel A. Ophoff,

    1. Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    2. Rudolf Magnus Institute of Neuroscience, Department of Neuroscience and Pharmacology, University Medical Center Utrecht, Utrecht, The Netherlands
    3. Center for Neurobehavioral Genetics, University of California Los Angeles, Los Angeles, California
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  • Herman van Engeland,

    1. Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands
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  • Frits A. Beemer,

    1. Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
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  • René S. Kahn,

    1. Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands
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  • Richard J. Sinke,

    1. Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
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  • Anne S. Bassett

    1. Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    2. Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
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  • Please cite this article as follows: Vorstman JAS, Chow EW, Ophoff RA, van Engeland H, Beemer FA, Kahn RS, Sinke RJ, Bassett AS. 2009. Association of the PIK4CA Schizophrenia-Susceptibility Gene in Adults With the 22q11.2 Deletion Syndrome. Am J Med Genet Part B 150B:430–433.

Abstract

The 22q11.2 deletion syndrome (22q11DS) is associated with an increased prevalence (20–30%) of schizophrenia. Therefore, it is likely that one or more genes within the 22q11.2 region are causally related to schizophrenia. Recently, a significant association with schizophrenia in the general population was reported for three SNPs in phosphatidyl-inositol-4-kinase-catalytic-α (PIK4CA), a gene located in the 22q11.2 region. In the current study, we tested the hypothesis that the same PIK4CA risk-alleles would be associated with schizophrenia in individuals with 22q11DS. Our analysis of the PIK4CA genotypes in a sample of 79 adults with typical 22q11.2 deletions, comparing those with schizophrenia to those without, revealed a significant association. Our findings represent an independent replication of the previously reported PIK4CA association with schizophrenia in the general population. Second, the results of this study indicate that variation at PIK4CA may be a relevant factor influencing the risk of schizophrenia in individuals with 22q11DS. © 2008 Wiley-Liss, Inc.

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