Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
12668349
TITLE
The endophenotype concept in psychiatry: etymology and strategic intentions.
ABSTRACT
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.
DATE PUBLISHED
2003 Apr
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2003/04/02 05:00
medline 2003/05/21 05:00
entrez 2003/04/02 05:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Gottesman II Gottesman Irving I II Department of Psychiatry, University of Minnesota Medical School, Minneapolis 55454, USA. Gotte003@UMN.edu
Gould TD Gould Todd D TD
INVESTIGATORS
JOURNAL
VOLUME: 160
ISSUE: 4
TITLE: The American journal of psychiatry
ISOABBREVIATION: Am J Psychiatry
YEAR: 2003
MONTH: Apr
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0002-953X
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Am J Psychiatry
COUNTRY: United States
ISSNLINKING: 0002-953X
NLMUNIQUEID: 0370512
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, U.S. Gov't, P.H.S.
Review
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Disease Models, Animal
Family
Genetic Predisposition to Disease
Humans
Memory Disorders physiopathology
Mental Disorders physiopathology
Models, Biological physiopathology
Models, Genetic physiopathology
Phenotype physiopathology
Prefrontal Cortex physiopathology
Psychiatry methods
Pursuit, Smooth physiology
Research Design physiology
Risk physiology
Saccades physiology
Schizophrenia physiopathology
Schizophrenic Psychology physiopathology
Terminology as Topic physiopathology
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's