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Updated: Feb 26, 2026

Inoculating Anopheles gambiae Mosquitoes with Beads to Induce and Measure the Melanization Immune Response
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Genetic adaptation to historical pathogen burdens.

Johannes W Fedderke1, Robert E Klitgaard2, Valerio Napolioni3

  • 1Pennsylvania State University, School of International Affairs, State College, PA, USA.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases
|July 22, 2017
PubMed
Summary

Historical pathogen exposure may drive human genetic adaptation. This study found evidence of adaptation in genes like acid phosphatase (ACP1) and human leukocyte antigen (HLA), supporting pathogen-driven evolution theories.

Keywords:
Genetic adaptationGeographyHistorical pathogen burdensPaleohistorical markers

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Area of Science:

  • Evolutionary genetics
  • Human adaptation
  • Paleogenomics

Background:

  • Genetic adaptation is influenced by environmental pressures.
  • Historical pathogen burdens are hypothesized to be significant evolutionary drivers.
  • Previous studies have explored links between specific genes and environmental factors.

Purpose of the Study:

  • To investigate the role of historical pathogen burdens as a trigger for human genetic adaptation.
  • To identify specific genetic loci showing evidence of adaptation potentially linked to pathogens.
  • To establish a proof-of-concept for analyzing aggregate genomic data in relation to historical environmental factors.

Main Methods:

  • Examined evidence of genetic adaptation across 783 alleles.
  • Focused on specific genetic markers including acid phosphatase locus 1 (ACP1), interleukin-6 (IL6), interleukin-10 (IL10), and human leukocyte antigen (HLA) polymorphisms.
  • Employed statistical methods robust to environmental and endogeneity controls.

Main Results:

  • Found significant evidence of genetic adaptation at the ACP1, IL6, IL10, and HLA loci.
  • Observed adaptation signals remained robust after controlling for physical and historical environmental variables.
  • Demonstrated that historical pathogen burden is a significant factor in observed genetic variations.

Conclusions:

  • Historical pathogen burdens are a likely trigger for human genetic adaptation.
  • Specific genes, including ACP1 and HLA, show clear signals of pathogen-driven evolution.
  • This study provides a framework for future analyses using large-scale genomic data to understand human evolutionary history.