Genealogy of the CCR5 locus and chemokine system gene variants associated with altered rates of HIV-1 disease progression

Nat Med. 1998 Jul;4(7):786-93. doi: 10.1038/nm0798-786.

Abstract

Allelic variants for the HIV-1 co-receptors chemokine receptor 5 (CCR5) and CCR2, as well as the ligand for the co-receptor CXCR4, stromal-derived factor (SDF-1), have been associated with a delay in disease progression. We began this study to test whether polymorphisms in the CCR5 regulatory regions influence the course of HIV-1 disease, as well as to examine the role of the previously identified allelic variants in 1,090 HIV-1 infected individuals. Here we describe the evolutionary relationships between the phenotypically important CCR5 alleles, define precisely the CCR5 regulatory sequences that are linked to the CCR5-delta32 and CCR2-641 polymorphisms, and identify genotypes associated with altered rates of HIV-1 disease progression. The disease-retarding effects of the CCR2-641 allele were found in African Americans but not in Caucasians, and the SDF1-3'A/3'A genotype was associated with an accelerated progression to death. In contrast, the CCR5-delta32 allele and a CCR5 promoter mutation with which it is tightly linked were associated with limited disease-retarding effects. Collectively, these findings draw attention to a complex array of genetic determinants in the HIV-host interplay.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Black People / genetics
  • Black or African American
  • Chemokine CXCL12
  • Chemokines / genetics*
  • Chemokines, CXC / genetics
  • Chromosome Mapping
  • Disease Progression
  • Evolution, Molecular
  • Female
  • Follow-Up Studies
  • Genotype
  • HIV Infections / genetics*
  • HIV Infections / physiopathology*
  • HIV-1*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Receptors, CCR5 / genetics*
  • Regulatory Sequences, Nucleic Acid
  • Tumor Cells, Cultured
  • White People / genetics

Substances

  • CXCL12 protein, human
  • Chemokine CXCL12
  • Chemokines
  • Chemokines, CXC
  • Receptors, CCR5