TY - JOUR
T1 - Redefining the endophenotype concept to accommodate transdiagnostic vulnerabilities and etiological complexity
AU - Beauchaine, Theodore P.
AU - Constantino, John N.
N1 - Publisher Copyright:
© 2017 Future Medicine Ltd.
PY - 2017/9
Y1 - 2017/9
N2 - 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.
AB - 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.
KW - ADHD
KW - autism
KW - complex
KW - depression
KW - endophenotype
KW - etiology
KW - genetic
KW - neural
UR - http://www.scopus.com/inward/record.url?scp=85029809927&partnerID=8YFLogxK
U2 - 10.2217/bmm-2017-0002
DO - 10.2217/bmm-2017-0002
M3 - Review article
C2 - 28891303
AN - SCOPUS:85029809927
SN - 1752-0363
VL - 11
SP - 769
EP - 780
JO - Biomarkers in Medicine
JF - Biomarkers in Medicine
IS - 9
ER -