Functional genomics and schizophrenia: endophenotypes and mutant models

Psychiatr Clin North Am. 2007 Sep;30(3):365-99. doi: 10.1016/j.psc.2007.04.011.


This article summarizes the rationale, methods, and results of gene discovery programs in schizophrenia research and describes functional methods of investigating potential candidate genes. It focuses next on the most prominent current candidate genes and describes (1) evidence for their association with schizophrenia and research into the function of each gene; (2) investigation of the clinical phenotypes and endophenotypes associated with each gene, at the levels of psychopathologic, neurocognitive, electrophysiologic, neuroimaging, and neuropathologic findings; and (3) research into the ethologic, cognitive, social, and psychopharmacologic phenotype of mutants with targeted deletion of each gene. It examines gene-gene and gene-environment interactions. Finally, it looks at future directions for research.

Publication types

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

MeSH terms

  • Genetic Predisposition to Disease*
  • Genomics
  • Humans
  • Models, Genetic
  • Mutation
  • Phenotype
  • Schizophrenia / genetics*