Definition
Either one or a group of components in the pathway from distal genotype to psychiatric mental disorder that is measurable, demonstrates heritability, is expressed proportionality more in unaffected family members than in the general population, and is state-independent (even evident before the disease is fully expressed).
Introduction
The concept of endophenotype has been given prominence by Gottesman and Gould (2003). They defined it as the ensemble of measurable components in the pathway from distal genotype to psychiatric “disease” that fills the “invisible” gap between them. Individual endophenotypes refer to any one measure that contributes to specifying the pathway from genes to mental disorder. In the original paper on the topic, Gottesman and Shields (1972, 1973) referred to endophenotypes as “internal” phenotypes.
By definition, endophenotypes lie between the genotype and the disease at issue, but they might lie closer either to the distal end of the pathway, or the...
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Young, G. (2017). Endophenotypes, Personality, and Mental Disorder. In: Zeigler-Hill, V., Shackelford, T. (eds) Encyclopedia of Personality and Individual Differences. Springer, Cham. https://doi.org/10.1007/978-3-319-28099-8_749-1
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DOI: https://doi.org/10.1007/978-3-319-28099-8_749-1
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