14. Intermediate Phenotypes in Genetic Studies of Schizophrenia

  1. Daniel R. Weinberger MD3 and
  2. Paul J. Harrison MA, BM, BCh, DM(Oxon), FRCPsych4
  1. Michael F. Egan MD1 and
  2. Tyrone D. Cannon PhD2

Published Online: 8 MAR 2011

DOI: 10.1002/9781444327298.ch14

Schizophrenia, Third Edition

Schizophrenia, Third Edition

How to Cite

Egan, M. F. and Cannon, T. D. (2010) Intermediate Phenotypes in Genetic Studies of Schizophrenia, in Schizophrenia, Third Edition (eds D. R. Weinberger and P. J. Harrison), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444327298.ch14

Editor Information

  1. 3

    Genes, Cognition and Psychosis Program, Clinical Studies Section, Clinical Brain Disorders Branch, National Institute of Health, Bethesda, MD, USA

  2. 4

    Department of Psychiatry, University of Oxford, Warneford Hospital, Oxford, UK

Author Information

  1. 1

    Merck & Co Inc, North Wales, PA, USA

  2. 2

    Departments of Psychology and Psychiatry and Biobehavioral Sciences, Staglin Center for Cognitive Neuroscience, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA

Publication History

  1. Published Online: 8 MAR 2011
  2. Published Print: 10 DEC 2010

ISBN Information

Print ISBN: 9781405176972

Online ISBN: 9781444327298



  • intermediate phenotypes - in genetic studies of schizophrenia;
  • intermediate phenotypes, or “endophenotypes” - clinical or biological measures related to genetic risk for schizophrenia;
  • characteristics of valid intermediate phenotypes;
  • determining genetic variance for intermediate phenotypes;
  • biological findings in patients - with schizophrenia, and environmental factors;
  • design of genetic studies - using intermediate phenotypes;
  • eye tracking dysfunction;
  • electrophysiological/sensorimotor gating phenotypes;
  • cognitive phenotypes - neuropsychological deficits, prominent dimension of schizophrenia;
  • intermediate phenotypes - finding genes that increase risk for schizophrenia


This chapter contains sections titled:

  • Introduction

  • Methodological issues

  • Eye tracking dysfunction

  • Electrophysiological/sensorimotor gating phenotypes

  • Neuroimaging phenotypes

  • Cognitive phenotypes

  • Receptors, neurotransmitters, and cell - base phenotypes

  • Other phenotypes

  • Conclusions

  • References