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Genetic bases for endophenotypes in psychiatric disorders.

Wade H Berrettini1

  • 1Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania, 415 Curie Boulevard, Room 111, Philadelphia, PA 19107, USA. wadeb@mail.med.upenn.edu

Dialogues in Clinical Neuroscience
|November 3, 2005
PubMed
Summary

Endophenotypes, biological markers for psychiatric disorders, are reviewed. While not always heritable, heritability aids in studying candidate genes and understanding disorders like schizophrenia.

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Area of Science:

  • Psychiatry and Genetics
  • Neuroscience

Background:

  • Endophenotypes are measurable biological traits linked to psychiatric disorders.
  • Their heritability is a key characteristic but not a strict requirement.
  • Traditional psychiatric classifications may not align with biological categories.

Purpose of the Study:

  • To review the concept of endophenotypes.
  • To discuss the role of heritability and diagnostic specificity.
  • To summarize evidence for schizophrenia endophenotypes.

Main Methods:

  • Review of existing literature on endophenotypes.
  • Discussion of heritability assessment (twin studies, DNA sequencing).
  • Examination of diagnostic specificity in psychiatric disorders.

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Main Results:

  • Endophenotypes are not necessarily heritable (e.g., in utero infections).
  • Heritability facilitates study of candidate genes.
  • Schizophrenia shows promising endophenotypes: P50 abnormalities and cognitive deficits.

Conclusions:

  • Endophenotypes offer a bridge between genetics and psychiatric disorders.
  • Heritability is a valuable, though not essential, feature for endophenotype research.
  • P50 abnormalities and cognitive deficits are supported as schizophrenia endophenotypes.