Redefining the endophenotype concept to accommodate transdiagnostic vulnerabilities and etiological complexity

Theodore P. Beauchaine, John N. Constantino

Research output: Contribution to journalReview articlepeer-review

66 Scopus citations

Abstract

In psychopathology research, endophenotypes are a subset of biomarkers that indicate genetic vulnerability independent of clinical state. To date, an explicit expectation is that endophenotypes be specific to single disorders. We evaluate this expectation considering recent advances in psychiatric genetics, recognition that transdiagnostic vulnerability traits are often more useful than clinical diagnoses in psychiatric genetics, and appreciation for etiological complexity across genetic, neural, hormonal and environmental levels of analysis. We suggest that the disorder-specificity requirement of endophenotypes be relaxed, that neural functions are preferable to behaviors as starting points in searches for endophenotypes, and that future research should focus on interactive effects of multiple endophenotypes on complex psychiatric disorders, some of which are 'phenocopies' with distinct etiologies.

Original languageEnglish
Pages (from-to)769-780
Number of pages12
JournalBiomarkers in Medicine
Volume11
Issue number9
DOIs
StatePublished - Sep 2017

Keywords

  • ADHD
  • autism
  • complex
  • depression
  • endophenotype
  • etiology
  • genetic
  • neural

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