Allelic distribution of CCR5 and CCR2 genes in an Italian population sample

AIDS Res Hum Retroviruses. 2000 Jan 20;16(2):99-101. doi: 10.1089/088922200309430.

Abstract

Genetic polymorphisms of CCR5 and CCR2 human chemokine receptors have been associated with resistance during HIV-1 infection and disease progression. The protective effect of mutant alleles at these loci has important implications in AIDS pathogenesis. Chemokine receptors have a role in viral entry into target cells as well as in immune response modulation. In the present report, we studied the frequency of CCR5delta32 and CCR264I allelic variants among a representative sample of the Italian population. Observed allelic frequencies were 0.0454 and 0.0655, respectively. In both cases, genotype distribution was in equilibrium as predicted by the Hardy-Weinberg equation. Taken as a whole, about 21% of the population sample was found to be heterozygous for one or another of those two mutated alleles. Distribution of CCR5delta32 and CCR264I allelic variants within a population can be considered as a measure of genetic susceptibility to HIV infection and disease progression.

MeSH terms

  • Alleles
  • Gene Deletion
  • Genetic Predisposition to Disease
  • Genetics, Population
  • Genotype
  • HIV Infections / genetics
  • HIV-1
  • Humans
  • Italy
  • Polymorphism, Genetic
  • Receptors, CCR2
  • Receptors, CCR5 / genetics*
  • Receptors, Chemokine / genetics*
  • Receptors, Cytokine / genetics*

Substances

  • CCR2 protein, human
  • Receptors, CCR2
  • Receptors, CCR5
  • Receptors, Chemokine
  • Receptors, Cytokine