The endophenotype concept in psychiatry: etymology and strategic intentions.
paper
Cited
Public
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- Authors
- Gottesman, Irving I; Gould, Todd D
- Year
- 2003
- Journal
- The American journal of psychiatry
- PMID
- 12668349
- DOI
- 10.1176/appi.ajp.160.4.636
Endophenotypes, measurable components unseen by the unaided eye along the pathway between disease and distal genotype, have emerged as an important concept in the study of complex neuropsychiatric diseases. An endophenotype may be neurophysiological, biochemical, endocrinological, neuroanatomical, cognitive, or neuropsychological (including configured self-report data) in nature. Endophenotypes represent simpler clues to genetic underpinnings than the disease syndrome itself, promoting the view that psychiatric diagnoses can be decomposed or deconstructed, which can result in more straightforward-and successful-genetic analysis. However, to be most useful, endophenotypes for psychiatric disorders must meet certain criteria, including association with a candidate gene or gene region, heritability that is inferred from relative risk for the disorder in relatives, and disease association parameters. In addition to furthering genetic analysis, endophenotypes can clarify classification and diagnosis and foster the development of animal models. The authors discuss the etymology and strategy behind the use of endophenotypes in neuropsychiatric research and, more generally, in research on other diseases with complex genetics.
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| Neurological Soft Signs Are Associated With Altered Cerebellar-Cerebral Functional Connectivity in Schizophrenia. | Cai XL et al. | — | 2021 | → |
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| Polygenic risk for obsessive-compulsive disorder (OCD) predicts brain response during working memory task in OCD, unaffected relatives, and healthy controls. | Heinzel S et al. | — | 2021 | → |
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| Precision Psychiatry: Biomarker-Guided Tailored Therapy for Effective Treatment and Prevention in Major Depression. | Jones C et al. | — | 2021 | → |
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| Psychiatry in the Digital Age: A Blessing or a Curse? | Roth CB et al. | — | 2021 | → |
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| Role of an Atypical Cadherin Gene, Cdh23 in Prepulse Inhibition, and Implication of CDH23 in Schizophrenia. | Balan S et al. | — | 2021 | → |
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| Shared alterations in resting-state brain connectivity in adults with attention-deficit/hyperactivity disorder and their unaffected first-degree relatives. | Pironti VA et al. | — | 2021 | → |
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| Conceptualization of Heterogeneity of Chronic Diseases and Atherosclerosis as a Pathway to Precision Medicine: Endophenotype, Endotype, and Residual Cardiovascular Risk. | Genkel VV et al. | — | 2020 | → |
| Cortisol as a Biomarker of Alcohol Use in Combat Veterans: A Literature Review and Framework for Future Research. | Szabo YZ et al. | — | 2020 | → |
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| Inclusion of endophenotypes in a standard GWAS facilitate a detailed mechanistic understanding of genetic elements that control blood lipid levels. | Zhang Q et al. | — | 2020 | → |
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| Neurocognitive and Psychiatric Markers for Addiction: Common vs. Specific Endophenotypes for Heroin and Amphetamine Dependence. | Long EC et al. | — | 2020 | → |
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