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A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
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Endophenotype best practices.

William G Iacono1, Stephen M Malone1, Scott I Vrieze2

  • 1University of Minnesota, United States.

International Journal of Psychophysiology : Official Journal of the International Organization of Psychophysiology
|July 31, 2016
PubMed
Summary
This summary is machine-generated.

Electrophysiological endophenotype research requires large sample sizes and data sharing to discover genetic links to complex traits. Resting heart rate is a notable exception with verified molecular genetic associations.

Keywords:
BiomarkerCandidate geneData sharingEndophenotypeGREMLGWASGenesHeritability

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Area of Science:

  • Neuroscience
  • Psychiatry
  • Genetics

Background:

  • Electrophysiological endophenotypes are proposed to aid in discovering genes for psychopathology.
  • Current research faces limitations due to the complex genetic architecture of these traits.

Purpose of the Study:

  • To review the current state of electrophysiological endophenotype research.
  • To recommend best practices informed by molecular genetic research on complex traits.

Main Methods:

  • Review of over 40 electrophysiological endophenotypes.
  • Analysis of molecular genetic research findings over the past decade.

Main Results:

  • Most electrophysiological endophenotypes, like behavioral traits, are complex and influenced by numerous genes with small effects.
  • Resting heart rate is the only identified electrophysiological variable with verified associations to molecular genetic variants.

Conclusions:

  • Discovering novel genetic variants for endophenotypes necessitates extremely large sample sizes, achieved through consortia and data sharing.
  • Endophenotype research can be advanced by examining associations with known psychopathology variants and leveraging functional genetic insights.
  • Endophenotypes retain value for studying developmental trajectories, creating animal models, and understanding neural mechanisms relevant to clinical disorders, even without direct genetic associations.