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.

CCR2 and CCR5 gene polymorphisms in children with recurrent respiratory infections

“…CCR5 allelic counts did not show statistically significant difference between cases and controls (P=0?8). CCR5D32 allelic frequency in the general population was in accordance with previous reports (16,17). Both CCR2 and CCR5 genotype distribution were in equilibrium according to the Hardy-Winberg equation.…”

“…It was excluded the presence of cystic fibrosis patients or mutation carriers by clinical evaluation or reverse hybridization analysis. After obtaining informed written consent, a mouthwash sample was taken for DNA extraction, and CCR2 and CCR5 genotypes were determined on amplification products, as previously described (16). Fisher's exact test and w 2 test were employed in order to evaluate differences in allelic counts between cases and controls and verify the Hardy-Weinberg equilibrium in both groups.…”

Conformational Properties of HIV-1 gp120/V3 Immunogenic Domains

“…The binding epitope of antibodies which neutralize a wide spectrum of HIV isolates has been identified as the third hypervariable loop (V3 loop) of gp120. This region is a surface accessible loop formed by a disulfide bridge between two conserved cysteines at positions 303 and 338 of gp120 and has been shown to bind to the chemokine co-receptors [36][37][38][39][40][41]. Its amino acid sequence varies highly among individual isolates and determines the cellular tropism, thus co-receptor specificity of the virus.…”

Fluorescence Resonance Energy Transfer Analysis of CCR2-V64I and SDF1-3′A Polymorphisms: Prevalence in Southern Spain HIV Type 1+Cohort and Noninfected Population

“…13 Several population-based studies reporting on allelic frequencies of CCR2-V64I and/or SDF1-39A have been published. [14][15][16][17] The allele frequency of SDF1-39A is approximately 21% in people of European descent, with a significantly lower prevalence in the African-American population, approximately 5.6%. 11 The allele frequency of the CCR2-V64I polymorphism reported in Caucasians is 9.8%.…”