The importance of endophenotypes in schizophrenia research

Schizophrenia Research
David L Braff

Abstract

Endophenotypes provide a powerful neurobiological platform from which we can understand the genomic and neural substrates of schizophrenia and other common complex neuropsychiatric disorders. The Consortium on the Genetics of Schizophrenia (COGS) has conducted multisite studies on carefully selected key neurocognitive and neurophysiological endophenotypes in 300 families (COGS-1) and then in a follow up multisite case-control study of 2471 subjects (COGS-2). Endophenotypes are neurobiologically informed quantitative measures that show deficits in probands and their first degree relatives. They are more amenable to statistical analysis than are "fuzzy" qualitative clinical traits or confoundingly heterogeneous diagnostic categories. Endophenotypes are also viewed as uniquely informative in traditional diagnosis-based as well as emerging NIMH Research Domain (RDoC) contexts, offering a bridge between the two approaches to psychopathology classification and research. Endo- or intermediate phenotypes are heritable, and in the COGS-1 cohort their level of heritability is in the same range as is the heritability of schizophrenia itself, using the same statistical methods and subjects to assess both. Because we can demonstrate endophe...Continue Reading

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Feb 4, 2016·Stem Cells International·Sára KálmánJános M Réthelyi
May 2, 2016·Schizophrenia Research·Leticia Sanguinetti CzepielewskiClarissa Severino Gama
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Aug 24, 2017·Genes, Brain, and Behavior·S MascherettiC Marino
May 23, 2021·Journal of Psychiatric Research·Diego Barreto RebouçasClarissa Severino Gama

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