Genetics of HIV-1 infection: chemokine receptor CCR5 polymorphism and its consequences

Hum Mol Genet. 1999;8(10):1939-45. doi: 10.1093/hmg/8.10.1939.

Abstract

The chemokine receptor gene, CCR5, has become a central theme in studies of host genetic effects on HIV-1 pathogenesis ever since the discovery that the CCR5 molecule serves as a major cell surface co-receptor for the virus. A growing number of genetic variants within the coding and 5' regulatory region of CCR5 have been identified, several of which have functional consequences for HIV-1 pathogenesis. Here we review the CCR5 literature describing CCR5 polymorphism and the functional ramifications that several of these variants have on HIV-1 infection and progression to AIDS. The multiplicity of CCR5 genetic effects on HIV-1 disease underscores the critical importance of this gene in controlling AIDS pathogenesis and provides the logic for develop-ment of therapeutic strategies that target the interaction of HIV-1 envelope and CCR5 in HIV-1 associated disease.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Genetic Variation / genetics
  • HIV Infections / genetics*
  • HIV Infections / metabolism*
  • HIV-1* / metabolism
  • Humans
  • Linkage Disequilibrium / genetics
  • Mutation / genetics
  • Open Reading Frames / genetics
  • Polymorphism, Genetic / genetics*
  • Promoter Regions, Genetic / genetics
  • Receptors, CCR5 / genetics*
  • Receptors, CCR5 / metabolism*

Substances

  • Receptors, CCR5