From evolutionary genetics to human immunology: how selection shapes host defence genes

Nat Rev Genet. 2010 Jan;11(1):17-30. doi: 10.1038/nrg2698. Epub 2009 Dec 1.


Pathogens have always been a major cause of human mortality, so they impose strong selective pressure on the human genome. Data from population genetic studies, including genome-wide scans for selection, are providing important insights into how natural selection has shaped immunity and host defence genes in specific human populations and in the human species as a whole. These findings are helping to delineate genes that are important for host defence and to increase our understanding of how past selection has had an impact on disease susceptibility in modern populations. A tighter integration between population genetic studies and immunological phenotype studies is now necessary to reveal the mechanisms that have been crucial for our past and present survival against infection.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alleles
  • Animals
  • Chromosome Mapping
  • Computational Biology / methods*
  • Epistasis, Genetic
  • Evolution, Molecular*
  • Gene Expression Regulation
  • Genetics, Population
  • Genome
  • Humans
  • Immune System
  • Models, Genetic
  • Phenotype
  • Selection, Genetic