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Related Concept Videos

Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Epistasis01:39

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...

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Phenotypic Profiling of Human Stem Cell-Derived Midbrain Dopaminergic Neurons
09:21

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Endophenotype: a conceptual analysis.

K S Kendler1, M C Neale

  • 1Department of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA 23298-0126, USA. kendler@vcu.edu

Molecular Psychiatry
|February 10, 2010
PubMed
Summary
This summary is machine-generated.

This study analyzes the endophenotype (EP) construct in psychiatric disorder (PD) research. It clarifies EP models and their genetic and environmental influences, offering insights for etiological research.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Area of Science:

  • Psychiatric Genetics
  • Quantitative Genetics
  • Etiological Research

Background:

  • The endophenotype (EP) construct is increasingly utilized in genetic research for psychiatric disorders (PDs).
  • Understanding the complex interplay between EPs, genetic factors, and PDs is crucial for etiological research.

Purpose of the Study:

  • To provide a conceptual analysis of the endophenotype construct in psychiatric disorder research.
  • To explore various modeling approaches for endophenotypes and their genetic underpinnings.
  • To highlight the implications of endophenotype conceptualization for advancing etiological research in psychiatric disorders.

Main Methods:

  • Conceptual analysis using path analysis to illustrate key points.
  • Distinguishing between mediational and liability-index models for endophenotypes.
  • Considering bidirectional relationships, partial mediation, and independent genetic effects.

Main Results:

  • Reliability of EP and PD measures critically impacts inference; ignoring this can lead to errors.
  • Genetic effects on PD may be partially mediated by EP, or some genetic influences may affect only EP or PD.
  • Multivariate genetic models can accommodate multiple EPs and PDs, and environmental influences.

Conclusions:

  • Endophenotype models require careful consideration of different causal pathways and genetic influences.
  • Multivariate genetic models offer a flexible framework for studying complex relationships between EPs, PDs, and environmental factors.
  • Optimizing the use of the EP concept in etiological research necessitates viewing it within a broader framework of multivariate genetic modeling.