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Genome-wide burden of deleterious coding variants increased in schizophrenia

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  • Loes M. Olde Loohuis

    (Center for Neurobehavioral Genetics, University of California Los Angeles)

  • Jacob A. S. Vorstman

    (Brain Center Rudolf Magnus, University Medical Center Utrecht)

  • Anil P. Ori

    (Center for Neurobehavioral Genetics, University of California Los Angeles)

  • Kim A. Staats

    (Center for Neurobehavioral Genetics, University of California Los Angeles)

  • Tina Wang

    (Center for Neurobehavioral Genetics, University of California Los Angeles)

  • Alexander L. Richards

    (MRC Centre for Psychiatric Genetics and Genomics, Cardiff University)

  • Ganna Leonenko

    (MRC Centre for Psychiatric Genetics and Genomics, Cardiff University)

  • James T. Walters

    (MRC Centre for Psychiatric Genetics and Genomics, Cardiff University)

  • Joseph DeYoung

    (Center for Neurobehavioral Genetics, University of California Los Angeles)

  • Rita M. Cantor

    (Center for Neurobehavioral Genetics, University of California Los Angeles
    University of California Los Angeles)

  • Roel A. Ophoff

    (Center for Neurobehavioral Genetics, University of California Los Angeles
    Brain Center Rudolf Magnus, University Medical Center Utrecht
    University of California Los Angeles)

Abstract

Schizophrenia is a common complex disorder with polygenic inheritance. Here we show that by using an approach that compares the individual loads of rare variants in 1,042 schizophrenia cases and 961 controls, schizophrenia cases carry an increased burden of deleterious mutations. At a genome-wide level, our results implicate non-synonymous, splice site as well as stop-altering single-nucleotide variations occurring at minor allele frequency of ≥0.01% in the population. In an independent replication sample of 5,585 schizophrenia cases and 8,103 controls of European ancestry we confirm an enrichment in cases of the alleles identified in our study. In addition, the genes implicated by the increased burden of rare coding variants highlight the involvement of neurodevelopment in the aetiology of schizophrenia.

Suggested Citation

  • Loes M. Olde Loohuis & Jacob A. S. Vorstman & Anil P. Ori & Kim A. Staats & Tina Wang & Alexander L. Richards & Ganna Leonenko & James T. Walters & Joseph DeYoung & Rita M. Cantor & Roel A. Ophoff, 2015. "Genome-wide burden of deleterious coding variants increased in schizophrenia," Nature Communications, Nature, vol. 6(1), pages 1-6, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms8501
    DOI: 10.1038/ncomms8501
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