Mapping Risk from Genes to Behavior: The Enduring and Evolving Influence of Irving Gottesman's Endophenotype Concept

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies
Danielle M Dick

Abstract

One of Irving I. Gottesman's many contributions to behavior genetics, and part of his enduring legacy, was his introduction of the term 'endophenotype' to the field of psychiatry. Gottesman argued that focusing on endophenotypes, rather than complex heterogeneous clinical diagnoses, could help elucidate disease etiology. Although a different strategy for gene identification ultimately proved successful (that of amassing extremely large sample sizes in order to overcome the 'noise' of heterogeneity and have sufficient power to find genes of very small effect), the endophenotype concept continues to make a meaningful contribution to the field. The endophenotype concept forced the field to move beyond a simple disease model of finding genes 'for' psychiatric outcomes, and reminded us that genes are quite distal from complex behavioral outcomes and disorders. Endophenotypes called our attention to the steps along that pathway. In that process, the concept of endophenotypes evolved and expanded to include discussion of the role that other intermediary traits and psychological processes play in the development and genetic etiology of psychiatric and substance use disorders. As large-scale consortia continues to identify genes and gen...Continue Reading

References

Apr 2, 2003·The American Journal of Psychiatry·Irving I Gottesman, Todd D Gould
Sep 19, 2006·Psychological Medicine·Jonathan Flint, Marcus R Munafò
Aug 25, 2007·Annual Review of Clinical Psychology·Tyrone D Cannon, Matthew C Keller
Sep 20, 2011·Nature Genetics·UNKNOWN Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium
Jan 10, 2013·Annual Review of Clinical Psychology·Gregory A Miller, Brigitte Rockstroh
Jul 25, 2014·Nature·UNKNOWN Schizophrenia Working Group of the Psychiatric Genomics Consortium
Oct 26, 2016·International Journal of Psychophysiology : Official Journal of the International Organization of Psychophysiology·William G IaconoScott I Vrieze
Sep 12, 2017·Biomarkers in Medicine·Theodore P Beauchaine, John N Constantino
Dec 12, 2017·Genes, Brain, and Behavior·Danielle M DickJinni Su
Feb 24, 2018·Genome Medicine·William G Iacono
Jul 22, 2018·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Jinni SuDanielle M Dick

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Citations

May 6, 2019·JAMA Network Open·Renato PolimantiUNKNOWN Psychiatric Genomics Consortium Posttraumatic Stress Disorder Working Group
Oct 6, 2020·Development and Psychopathology·Anna GuiUNKNOWN BASIS-STAARS team

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