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Dialogues Clin Neurosci. 2005;7(2):95-101.

Genetic bases for endophenotypes in psychiatric disorders.

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


This article reviews the concept of an endophenotype, with particular reference to heritability as well as diagnostic specificity. An endophenotype need not be heritable, for example, the possible influence of in utero viral infections for schizophrenia. However, heritability is a useful characteristic for a potential endophenotype, as it can be studied in relation to a plausible candidate gene. It should be noted that the traditional methods of demonstrating heritability, eg, twin studies, can be supplemented with DNA sequence studies, suggesting heritability. Endophenotypes need not be specific to a given nosological class of psychiatric disorders, as these classes do not reflect biological categories. Evidence for two useful schizophrenia endophenotypes, the P50 abnormalities and cognitive deficits, is summarized.

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