[Intermediate Phenotype of Schizophrenia]

Nihon Rinsho. 2013 Apr;71(4):610-4.
[Article in Japanese]


Genes are major contributors to schizophrenia. The intermediate phenotype concept represents a strategy for identifying risk genes for schizophrenia and for characterizing the neural systems affected by risk gene variants to elucidate quantitative, mechanistic aspects of brain function implicated in schizophrenia. Intermediate phenotypes are defined by being heritable, being able to measure quantitatively; being related to the disorder and its symptoms in the general population; being stable over time; showing increased expression in unaffected relatives of probands; and cosegregation with the disorder in families. Intermediate phenotypes in schizophrenia are neurocognition, neuroimaging, neurophysiology, etc. In this review, we present concept, recent work, and future perspective of intermediate phenotype.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Neuroimaging / methods
  • Phenotype
  • Risk Factors
  • Schizophrenia / diagnosis
  • Schizophrenia / genetics*
  • Schizophrenia / physiopathology