Genome-wide burden of deleterious coding variants increased in schizophrenia

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 and Roel A. Ophoff ()
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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
Roel A. Ophoff: Center for Neurobehavioral Genetics, University of California Los Angeles

Nature Communications, 2015, vol. 6, issue 1, 1-6

Abstract: 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.

Date: 2015
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DOI: 10.1038/ncomms8501

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