Rare structural variation of synapse and neurotransmission genes in autism

Mol Psychiatry. 2012 Apr;17(4):402-11. doi: 10.1038/mp.2011.10. Epub 2011 Mar 1.

Abstract

Autism spectrum disorders (ASDs) comprise a constellation of highly heritable neuropsychiatric disorders. Genome-wide studies of autistic individuals have implicated numerous minor risk alleles but few common variants, suggesting a complex genetic model with many contributing loci. To assess commonality of biological function among rare risk alleles, we compared functional knowledge of genes overlapping inherited structural variants in idiopathic ASD subjects relative to healthy controls. In this study we show that biological processes associated with synapse function and neurotransmission are significantly enriched, with replication, in ASD subjects versus controls. Analysis of phenotypes observed for mouse models of copy-variant genes established significant and replicated enrichment of observable phenotypes consistent with ASD behaviors. Most functional terms retained significance after excluding previously reported ASD loci. These results implicate several new variants that involve synaptic function and glutamatergic signaling processes as important contributors of ASD pathophysiology and suggest a sizable pool of additional potential ASD risk loci.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Animals
  • Case-Control Studies
  • Child
  • Child Development Disorders, Pervasive / genetics*
  • Child, Preschool
  • DNA Copy Number Variations / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study / methods
  • Genome-Wide Association Study / statistics & numerical data
  • Genotyping Techniques / methods
  • Genotyping Techniques / psychology
  • Humans
  • Male
  • Mice
  • Nerve Tissue Proteins / genetics*
  • Phenotype
  • Synapses / genetics*
  • Synaptic Transmission / genetics*

Substances

  • Nerve Tissue Proteins