A polygenic burden of rare disruptive mutations in schizophrenia

Nature. 2014 Feb 13;506(7487):185-90. doi: 10.1038/nature12975. Epub 2014 Jan 22.

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.

Publication types

  • Research Support, American Recovery and Reinvestment Act
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / genetics
  • Calcium Channels / genetics
  • Cytoskeletal Proteins / genetics
  • DNA Copy Number Variations / genetics
  • Disks Large Homolog 4 Protein
  • Female
  • Fragile X Mental Retardation Protein / metabolism
  • Genome-Wide Association Study
  • Humans
  • Intellectual Disability / genetics
  • Intracellular Signaling Peptides and Proteins / genetics
  • Male
  • Membrane Proteins / genetics
  • Multifactorial Inheritance / genetics*
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics
  • Receptors, N-Methyl-D-Aspartate / genetics
  • Schizophrenia / genetics*

Substances

  • Calcium Channels
  • Cytoskeletal Proteins
  • DLG4 protein, human
  • Disks Large Homolog 4 Protein
  • FMR1 protein, human
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • Nerve Tissue Proteins
  • Receptors, N-Methyl-D-Aspartate
  • activity regulated cytoskeletal-associated protein
  • Fragile X Mental Retardation Protein