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No evidence that common genetic risk variation is shared between schizophrenia and autism

Authors

  • Jacob A.S. Vorstman,

    Corresponding author
    1. Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands
    • Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands.
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  • Richard J.L. Anney,

    1. Department of Psychiatry, Trinity College Dublin, Dublin, Ireland
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  • Eske M. Derks,

    1. Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands
    2. Academic Medical Center, Department of Psychiatry, Amsterdam, The Netherlands
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  • Louise Gallagher,

    1. Department of Psychiatry, Trinity College Dublin, Dublin, Ireland
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  • Michael Gill,

    1. Department of Psychiatry, Trinity College Dublin, Dublin, Ireland
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  • Maretha V. de Jonge,

    1. Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands
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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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  • René S. Kahn,

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

    1. Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands
    2. Center for Neurobehavioral Genetics, University of California Los Angeles, Los Angeles, California
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  • the Autism Genome Project, the International Schizophrenia Consortium


  • How to Cite this Article: Vorstman JAS, Anney RJL, Derks EM, Gallagher L, Gill M, de Jonge MV, van Engeland H, Kahn RS, Ophoff RA the Autism Genome Project, the International Schizophrenia Consortium. 2012. No Evidence That Common Genetic Risk Variation Is Shared Between Schizophrenia and Autism. Am J Med Genet Part B 162B:55–60.

Abstract

The similarity between aspects of the clinical presentation of schizophrenia and autism spectrum disorders (ASD) suggests that elements of the biological etiology may also be shared between these two disorders. Recently, an increasing number of rare, mostly structural genetic variants are reported to increase the risk of both schizophrenia and ASD. We hypothesized that given this evidence for a shared genetic background based on rare genetic variants, common risk alleles may also be shared between ASD and schizophrenia. To test this hypothesis, the polygenic score, which summarizes the collective effect of a large number of common risk alleles, was used. We examined whether the polygenic score derived from a schizophrenia case–control dataset, previously reported by Purcell et al., was able to differentiate ASD cases from controls. The results demonstrate that the schizophrenia-derived polygenic score is not different between ASD cases and controls, indicating that there is no important sharing of common risk alleles between the two neuropsychiatric disorders. Possibly, common risk alleles are less important in ASD in comparison to their more prominent role in schizophrenia and bipolar disorders. These findings provide important novel insights into shared and distinct elements of the genetic architecture of autism and schizophrenia. © 2012 Wiley Periodicals, Inc.

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