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The use of neurophysiological endophenotypes to understand the genetic basis of schizophrenia

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Braff, David L., Light, Gregory A.·2005·Dialogues in Clinical Neuroscience

Abstract

Specifying the complex genetic architecture of the "fuzzy" clinical phenotype of schizophrenia is an imposing problem. Utilizing metabolic, neurocognitive, and neurophysiological "intermediate" endophenotypic measures offers significant advantages from a statistical genetics standpoint. Endophenotypic measures are amenable to quantitative genetic analyses, conferring upon them a major methodological advantage compared with largely qualitative diagnoses using the Diagnostic and Statistical Manual of Mental Health, 4th Edition (DSM-IV). Endophenotypic deficits occur across the schizophrenia spectrum in schizophrenia patients, schizotypal patients, and clinically unaffected relatives of schizophrenia patients. Neurophysiological measures, such as P50 event-related suppression and the prepulse inhibition (PPI) of the startle response, are endophenotypes that can be conceptualized as being impaired because of a single genetic abnormality in the functional cascade of DNA to RNA to protein. The "endophenotype approach" is also being used to understand other medical disorders, such as colon cancer, hemochromatosis, and hypertension, where there is interplay between genetically conferred vulnerability and nongenetic stressors. The power and utility of utilizing endophenotypes to understand the genetics of schizophrenia is discussed in detail in this article.

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Metadata

Authors
Braff, D. L., & Light, G. A.
Venue
Dialogues in Clinical Neuroscience
Published
2005-06-30
Volume
7
Issue
2
Pages
125-135
ISSN
  • 1294-8322 (ISSN-L)
  • 1958-5969
OpenAlex
W1662387941
Cited by
160
References
9
FWCI
6.42
Type
journal article
Language
en
Open access
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CoChat. (2026). Citation check: The use of neurophysiological endophenotypes to understand the genetic basis of schizophrenia. https://app.cochat.ai/papers/10.31887/dcns.2005.7.2/dlbraff
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Braff, D. L., & Light, G. A. (2005). The use of neurophysiological endophenotypes to understand the genetic basis of schizophrenia. Dialogues in Clinical Neuroscience. https://doi.org/10.31887/dcns.2005.7.2/dlbraff

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