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Related Experiment Videos

Balanced polymorphism selected by genetic versus infectious human disease.

Michael Dean1, Mary Carrington, Stephen J O'Brien

  • 1Laboratory of Genomic Diversity, Science Applications International Corporation, National Cancer Institute, Frederick, Maryland 21702-1201, USA. dean@ncifcrf.gov

Annual Review of Genomics and Human Genetics
|July 27, 2002
PubMed
Summary

Genetic variations in the human genome can cause inherited diseases. Some harmful mutations persist due to conferring disease resistance, offering a survival advantage during epidemics.

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Area of Science:

  • Human genetics
  • Evolutionary medicine
  • Immunogenetics

Background:

  • Human genome harbors functional polymorphisms, some leading to inherited diseases.
  • Elevated frequency of deleterious mutations can be linked to disease resistance advantages.
  • Infectious disease outbreaks can influence the evolutionary trajectory of genetic variants.

Purpose of the Study:

  • To review examples of balanced functional polymorphisms and their role in pathogen defense.
  • To explore the interplay between infectious diseases and human genetic variation.
  • To highlight the evolutionary impact of disease resistance.

Main Methods:

  • Literature review of balanced polymorphisms.
  • Analysis of genetic factors influencing disease resistance.

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  • Case study examination of chemokine receptor and HLA gene clusters.

    • Main Results:

    • Identified plausible examples of balanced functional polymorphisms.
    • Demonstrated a selective advantage for carriers of certain mutations during infectious outbreaks.
    • Showcased the role of genetic variants in pathogen defense.

    Conclusions:

    • Balanced polymorphisms play a crucial role in human defense against pathogens.
    • The human genome's evolution is significantly shaped by infectious disease pressures.
    • Interactions between genetic and infectious diseases are evident in recent human history, exemplified by HIV/AIDS.