Immunogenetics of HIV disease

Immunol Rev. 2013 Jul;254(1):245-64. doi: 10.1111/imr.12071.


Host genetic factors are a major contributing factor to the inter-individual variation observed in response to human immunodeficiency virus (HIV) infection and are linked to resistance to HIV infection among exposed individuals, as well as rate of disease progression and the likelihood of viral transmission. Of the genetic variants that have been shown to affect the natural history of HIV infection, the human leukocyte antigen (HLA) class I genes exhibit the strongest and most consistent association, underscoring a central role for CD8(+) T cells in resistance to the virus. HLA proteins play important roles in T-cell-mediated adaptive immunity by presenting immunodominant HIV epitopes to cytotoxic T lymphocytes (CTLs) and CD4(+) T cells. Genetic and functional data also indicate a function for HLA in natural killer cell-mediated innate immunity against HIV by interacting with killer cell immunoglobulin-like receptors (KIR). We review the HLA and KIR associations with HIV disease and discuss the mechanisms underlying these associations.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Animals
  • Biological Evolution
  • Gene Expression Regulation
  • Genetic Loci
  • Genetic Variation
  • Genome-Wide Association Study
  • HIV / physiology
  • HIV Infections / genetics*
  • HIV Infections / immunology*
  • HLA Antigens / genetics
  • HLA Antigens / immunology
  • Heterozygote
  • Humans
  • Killer Cells, Natural / immunology
  • Potassium Channels, Inwardly Rectifying / genetics
  • Potassium Channels, Inwardly Rectifying / immunology


  • HLA Antigens
  • Potassium Channels, Inwardly Rectifying