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- W1991330295 abstract "It is increasingly accepted that the imprecision of categorical psychiatric diagnoses can be a limiting factor in understanding the genetic basis of human behavioral abnormalities. Genetic investigation of endophenotypes – more precisely defined quantitative traits hypothesized to underlie disease syndromes – offers great promise as an alternative or complement to studies of categorical disease phenotypes. However, there is not yet standardization of the methods by which candidate endophenotypes should be chosen and applied. Fruitful endophenotype studies depend on the selection of heritable, quantitative traits that can be objectively and reliably measured. In this article, we propose guidelines for such investigations for psychiatric disorders, using endophenotypes previously proposed for bipolar disorder as particular examples. Gene expression studies and non-human primate models are recent developments in which an endophenotype approach might prove particularly valuable. It is increasingly accepted that the imprecision of categorical psychiatric diagnoses can be a limiting factor in understanding the genetic basis of human behavioral abnormalities. Genetic investigation of endophenotypes – more precisely defined quantitative traits hypothesized to underlie disease syndromes – offers great promise as an alternative or complement to studies of categorical disease phenotypes. However, there is not yet standardization of the methods by which candidate endophenotypes should be chosen and applied. Fruitful endophenotype studies depend on the selection of heritable, quantitative traits that can be objectively and reliably measured. In this article, we propose guidelines for such investigations for psychiatric disorders, using endophenotypes previously proposed for bipolar disorder as particular examples. Gene expression studies and non-human primate models are recent developments in which an endophenotype approach might prove particularly valuable. a psychiatric disorder formerly known as manic-depressive illness, usually involving extreme mood swings from periods of severe depression to periods of abnormally elevated mood (mania). Symptoms of mania can also include irritability, an overly-inflated sense of self-esteem and distractibility. Persons experiencing an episode of mania are generally talkative, have decreased need for sleep and might engage in reckless or risk-taking behaviors. a definition of phenotype based on presence or absence of disease. The DSM-IV, the major classification system for psychiatric diagnoses, is a primary example, as psychiatric illnesses are defined categorically rather than quantitatively (i.e. outside the normal range of variation). originally defined as an internal phenotype (i.e. not obvious to the unaided eye) that lies intermediate between the gene and the disease itself [47]. This concept is based on the assumption that genes involved in endophenotypic variation are likely to represent more elementary phenomena than those involved in complex psychiatric diagnostic entities. It is often used interchangeably with the term ‘intermediate trait,’ which is also used to describe a heritable quantitative phenotype believed to be closer in the chain of causality to the genes underlying the disease. is the proportion of phenotypic variance attributable to genetic variance. It is measured on a scale of zero to one; zero indicates no genetic influences on the trait, whereas a score of one indicates that the trait is wholly determined by genes. It is important to keep in mind that heritability depends on the range of typical environments in the population under investigation. If the environment is fairly homogeneous, then heritability can be high, but if the range of environmental differences is substantial, then it can be low. is a statistical method used to transform a number of potentially correlated variables into a smaller number of uncorrelated variables called principal components. The first principal component accounts for as much of the variability in the data as possible, and each succeeding component accounts for as much of the remaining variability as possible. The goals of PCA are to understand and/or to reduce the dimensionality of the data set and to identify new meaningful underlying variables. a quantitative trait is a phenotype that varies in a quantitative manner in the population. The variation can be due to combinations of genes and can be affected by environmental factors. Quantitative traits are often controlled by the cumulative (additive) action of multiple alleles, known as quantitative trait loci (QTLs). is a severe brain disease that involves profound disturbance in reality-testing, including hallucinations (hearing voices, seeing visions), delusions (false beliefs) and distorted thinking; it is frequently associated with extensive withdrawal from other people and the outside world. is a combination of a thought disorder and mood disorder, involving both prominent psychotic and prominent mood (manic or depressive) symptomatology. As such, its existence is thought to support the notion of genetic overlap between bipolar illness and schizophrenia. There is some evidence from family studies to suggest that schizoaffective disorder, bipolar type is genetically more similar to bipolar disorder, whereas schizoaffective disorder, depressive type tends to aggregate in families with schizophrenia [48]." @default.
- W1991330295 created "2016-06-24" @default.
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- W1991330295 date "2006-06-01" @default.
- W1991330295 modified "2023-10-17" @default.
- W1991330295 title "Endophenotypes for psychiatric disorders: ready for primetime?" @default.
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- W1991330295 doi "https://doi.org/10.1016/j.tig.2006.04.004" @default.
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