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

  1. Author:
    Romano-Spica, V.
    Ianni, A.
    Arzani, D.
    Cattarini, L.
    Majore, S.
    Dean, M.
  2. Author Address

    Romano-Spica V Catholic Univ, Fac Med, Inst Hyg & Publ Hlth Lgo F Vito 1 I-00168 Rome Italy Catholic Univ, Fac Med, Inst Hyg & Publ Hlth I-00168 Rome Italy Univ Rome La Sapienza, Fac Med, Inst Med Genet Rome Italy NCI, Lab Genomic Divers Frederick, MD 21702 USA
    1. Year: 2000
  1. Journal: Aids Research and Human Retroviruses
    1. 16
    2. 2
    3. Pages: 99-101
  2. Type of Article: Article
  1. 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, me studied the frequency of CCR5 Delta 32 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 CCR5 Delta 32 and CCR264I allelic variants within a population can be considered as a measure of genetic susceptibility to HIV infection and disease progression. [References: 28]

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