Genetics and intermediate phenotypes of the schizophrenia-bipolar disorder boundary

Elena I. Ivleva, David W. Morris, Amanda F. Moates, Trisha Suppes, Gunvant K. Thaker, Carol A. Tamminga

Research output: Contribution to journalReview articlepeer-review

121 Scopus citations


Categorization of psychotic illnesses into schizophrenic and affective psychoses remains an ongoing controversy. Although Kraepelinian subtyping of psychosis was historically beneficial, modern genetic and neurophysiological studies do not support dichotomous conceptualization of psychosis. Evidence suggests that schizophrenia and bipolar disorder rather present a clinical continuum with partially overlapping symptom dimensions, neurophysiology, genetics and treatment responses. Recent large scale genetic studies have produced inconsistent findings and exposed an urgent need for re-thinking phenomenology-based approach in psychiatric research. Epidemiological, linkage and molecular genetic studies, as well as studies in intermediate phenotypes (neurocognitive, neurophysiological and anatomical imaging) in schizophrenia and bipolar disorders are reviewed in order to support a dimensional conceptualization of psychosis. Overlapping and unique genetic and intermediate phenotypic signatures of the two psychoses are comprehensively recapitulated. Alternative strategies which may be implicated into genetic research are discussed.

Original languageEnglish (US)
Pages (from-to)897-921
Number of pages25
JournalNeuroscience and Biobehavioral Reviews
Issue number6
StatePublished - May 2010


  • Bipolar disorder
  • Genetics
  • Imaging
  • Intermediate phenotypes
  • Neurocognition
  • Neurophysiology
  • Psychosis
  • Schizophrenia

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Cognitive Neuroscience
  • Behavioral Neuroscience


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