Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2020-01-13

AUTHORS

Daniel P. Howrigan, Samuel A. Rose, Kaitlin E. Samocha, Menachem Fromer, Felecia Cerrato, Wei J. Chen, Claire Churchhouse, Kimberly Chambert, Sharon D. Chandler, Mark J. Daly, Ashley Dumont, Giulio Genovese, Hai-Gwo Hwu, Nan Laird, Jack A. Kosmicki, Jennifer L. Moran, Cheryl Roe, Tarjinder Singh, Shi-Heng Wang, Stephen V. Faraone, Stephen J. Glatt, Steven A. McCarroll, Ming Tsuang, Benjamin M. Neale

ABSTRACT

Protein-coding de novo mutations (DNMs) are significant risk factors in many neurodevelopmental disorders, whereas schizophrenia (SCZ) risk associated with DNMs has thus far been shown to be modest. We analyzed DNMs from 1,695 SCZ-affected trios and 1,077 published SCZ-affected trios to better understand the contribution to SCZ risk. Among 2,772 SCZ probands, exome-wide DNM burden remained modest. Gene set analyses revealed that SCZ DNMs were significantly concentrated in genes that were highly expressed in the brain, that were under strong evolutionary constraint and/or overlapped with genes identified in other neurodevelopmental disorders. No single gene surpassed exome-wide significance; however, 16 genes were recurrently hit by protein-truncating DNMs, corresponding to a 3.15-fold higher rate than the mutation model expectation (permuted 95% confidence interval: 1–10 genes; permuted P = 3 × 10−5). Overall, DNMs explain a small fraction of SCZ risk, and larger samples are needed to identify individual risk genes, as coding variation across many genes confers risk for SCZ in the population. More... »

PAGES

185-193

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41593-019-0564-3

    DOI

    http://dx.doi.org/10.1038/s41593-019-0564-3

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1124049584

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/31932770


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