A polygenic burden of rare disruptive mutations in schizophrenia View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-02

AUTHORS

Shaun M. Purcell, Jennifer L. Moran, Menachem Fromer, Douglas Ruderfer, Nadia Solovieff, Panos Roussos, Colm O’Dushlaine, Kimberly Chambert, Sarah E. Bergen, Anna Kähler, Laramie Duncan, Eli Stahl, Giulio Genovese, Esperanza Fernández, Mark O. Collins, Noboru H. Komiyama, Jyoti S. Choudhary, Patrik K. E. Magnusson, Eric Banks, Khalid Shakir, Kiran Garimella, Tim Fennell, Mark DePristo, Seth G. N. Grant, Stephen J. Haggarty, Stacey Gabriel, Edward M. Scolnick, Eric S. Lander, Christina M. Hultman, Patrick F. Sullivan, Steven A. McCarroll, Pamela Sklar

ABSTRACT

Schizophrenia is a common disease with a complex aetiology, probably involving multiple and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 schizophrenia cases and 2,543 controls, we demonstrate a polygenic burden primarily arising from rare (less than 1 in 10,000), disruptive mutations distributed across many genes. Particularly enriched gene sets include the voltage-gated calcium ion channel and the signalling complex formed by the activity-regulated cytoskeleton-associated scaffold protein (ARC) of the postsynaptic density, sets previously implicated by genome-wide association and copy-number variation studies. Similar to reports in autism, targets of the fragile X mental retardation protein (FMRP, product of FMR1) are enriched for case mutations. No individual gene-based test achieves significance after correction for multiple testing and we do not detect any alleles of moderately low frequency (approximately 0.5 to 1 per cent) and moderately large effect. Taken together, these data suggest that population-based exome sequencing can discover risk alleles and complements established gene-mapping paradigms in neuropsychiatric disease. More... »

PAGES

185

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature12975

    DOI

    http://dx.doi.org/10.1038/nature12975

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1000329485

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24463508


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