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Related Experiment Videos

An evolutionary framework for common diseases: the ancestral-susceptibility model.

Anna Di Rienzo1, Richard R Hudson

  • 1Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA. direnzo@genetics.uchicago.edu

Trends in Genetics : TIG
|September 13, 2005
PubMed
Summary

Ancestral alleles, once protective, now increase common disease risk due to lifestyle changes. Our evolutionary model and simulations explore these disease-associated genetic variations.

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Area of Science:

  • Evolutionary genetics
  • Population genetics
  • Human disease risk

Background:

  • Rare Mendelian diseases stem from new mutations (derived alleles).
  • Some common disease risk alleles are ancestral, while protective derived alleles emerged recently.
  • Ancestral alleles may represent ancient adaptations that are maladaptive in modern environments.

Purpose of the Study:

  • To investigate the evolutionary basis of common disease risk alleles.
  • To model the haplotype structure and disease-association signals of ancestral risk alleles.

Main Methods:

  • Development of an explicit evolutionary model.
  • Utilizing population genetics simulations.

Main Results:

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  • Analysis of expected haplotype structures for ancestral risk alleles.
  • Characterization of disease-association signals linked to ancestral alleles.

    • Conclusions:

    • Ancestral alleles can explain increased risk for common diseases in contemporary populations.
    • Evolutionary dynamics shape the genetic architecture of human diseases.