Intermediate phenotypes and genetic mechanisms of psychiatric disorders

Nat Rev Neurosci. 2006 Oct;7(10):818-27. doi: 10.1038/nrn1993.


Genes are major contributors to many psychiatric diseases, but their mechanisms of action have long seemed elusive. The intermediate phenotype concept represents a strategy for characterizing the neural systems affected by risk gene variants to elucidate quantitative, mechanistic aspects of brain function implicated in psychiatric disease. Using imaging genetics as an example, we illustrate recent advances, challenges and implications of linking genes to structural and functional variation in brain systems related to cognition and emotion.

Publication types

  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Animals
  • Diagnostic Imaging / methods
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Genotype
  • Humans
  • Mental Disorders* / genetics
  • Mental Disorders* / pathology
  • Mental Disorders* / physiopathology
  • Models, Genetic
  • Phenotype*