title: Allelic distribution of CCR5 and CCR2 genes in an Italian population sample.
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.
authors.affiliation: Institute of Hygiene and Public Health, Faculty of Medicine of the Catholic University, Rome, Italy. romanospica@caspur.it
authors.forename: V
authors.initials: V
authors.lastname: Romano-Spica
authors.forename: A
authors.initials: A
authors.lastname: Ianni
authors.forename: D
authors.initials: D
authors.lastname: Arzani
authors.forename: L
authors.initials: L
authors.lastname: Cattarini
authors.forename: S
authors.initials: S
authors.lastname: Majore
authors.forename: M
authors.initials: M
authors.lastname: Dean
mesh_terms: D000483:Alleles; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D005838:Genotype; D015658:HIV Infections / Q000235:genetics; D015497:HIV-1; D006801:Humans; D007558:Italy; D011110:Polymorphism, Genetic; D054390:Receptors, CCR2; D019713:Receptors, CCR5 / Q000235:genetics*; D019707:Receptors, Chemokine / Q000235:genetics*; D018121:Receptors, Cytokine / Q000235:genetics*
chemical_list: C515334:CCR2 protein, human; D054390:Receptors, CCR2; D019713:Receptors, CCR5; D019707:Receptors, Chemokine; D018121:Receptors, Cytokine