The role of DNA copy number variation in schizophrenia

Biol Psychiatry. 2009 Dec 1;66(11):1005-12. doi: 10.1016/j.biopsych.2009.07.027. Epub 2009 Sep 12.


Schizophrenia is a major psychiatric disease with strong evidence of genetic risk factors. Recent studies based on genome-wide study of copy number variations (CNVs) have detected novel recurrent submicroscopic copy number changes, including recurrent deletions at 1q21.11, 15q11.3, 15q13.3, and the recurrent CNV at the 2p16.3 neurexin 1 locus. These schizophrenia susceptibility CNV loci demonstrate that schizophrenia is, at least in part, genetic in origin and provide the basis for further investigation of mutations associated with the disease. The studies combined have also established the role of rare and-in sporadic cases-de novo variants in schizophrenia. Furthermore, neuronal-related genes and genetic pathways are starting to emerge from the CNV loci associated with schizophrenia. Here, we review the major findings in the recent literature, which begin to unravel the genetic and biological architecture of this complex human neuropsychiatric disorder.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosome Deletion
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 2
  • DNA Copy Number Variations*
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Mental Disorders / etiology
  • Mental Disorders / genetics
  • Models, Genetic
  • Neural Pathways / metabolism
  • Schizophrenia / etiology
  • Schizophrenia / genetics*