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Rare genetic variants and schizophrenia

Nature Neuroscience volume 19, pages 525–527 (2016)Cite this article

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A study reports mutations in a histone methyltransferase gene, SETD1A, in schizophrenia patients and demonstrates that tens of thousands of people must be screened to provide robust evidence of a gene's involvement in schizophrenia.

Sequencing exomes of patients with schizophrenia has shown that coding mutations contribute to disease risk, but turning that observation into robust gene identification has been hard. Singh et al.1 use exome sequencing data to implicate SETD1A, a modulator of chromatin, as a cause of psychotic illness. The work highlights the need to screen very large sample sizes to find the rare causative mutations that implicate specific genes.

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Figure 1: The path from exome analysis to gene finding in schizophrenia.

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Authors and Affiliations

  1. Jonathan Flint is in the Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.,

    Jonathan Flint

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  1. Jonathan Flint
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Correspondence to Jonathan Flint.

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Flint, J. Rare genetic variants and schizophrenia. Nat Neurosci 19, 525–527 (2016). https://doi.org/10.1038/nn.4271

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