Distribution of the mutated Δ32 allele of the CCR5 gene in a Sicilian population

Abstract

The CCR5 gene encodes a cell-surface chemokine receptor molecule that serves as a co-receptor for macrophage-tropic strains of human immunodeficiency virus type 1 (HIV-1). A mutation in this gene may alter the expression or the function of the protein product, thereby altering chemokine binding and/or signalling or HIV-1 infection of cells that normally express CCR5 protein. Individuals homozygous for a 32-bp deletion allele of CCR5 (CCR5 delta32), heritable as a Mendelian trait, are relatively resistant to HIV-1 infection. The CCR5 delta32 mutation is present in the Caucasian population at different frequencies. The aim of this study was to investigate the frequency of truncated alleles of the CCR5 delta32 gene in a Sicilian population, as the interpopulation variation in CCR5 delta32 frequency may be a significant factor in the prediction of AIDS endemicity in future studies. We examined 901 healthy individuals from several Sicilian provinces. We found a mean (+/- standard deviation) delta32 allele frequency (fr) of 0.04 +/- 0.012. The highest value was observed in the province of Messina, with a mean delta32 allele frequency of 0.06 +/- 0.024, where we collected samples from a cohort of 114 HIV-1-infected individuals. The observed frequency amongst these patients was quite low (fr = 0.03 +/- 0.031) compared to the healthy population, although the difference was not statistically significant.

p.R72P, PIN3 Ins16bp Polymorphisms of TP53 and CCR5Δ32 in North Indian Breast Cancer Patients

“…In India CCR5Δ32 allele was absent in most of the populations of India, except some populations of Northern/western India where it could have been introduced by Caucasian gene flow (Majumder and Dey, 2001). CCR5Δ32 deletion might alter the expression or function of the protein (Sidoti et al, 2005). In the present study, only four (5.0%) of the breast cancer patients were reported to be heterozygous for CCR5Δ32 mutation similar to 3.47% CCR5Δ32 heterozygous breast cancer patients reported in Brazilian population (Aoki et al, 2009).…”

CCR5Δ32 Polymorphism Associated with a Slower Rate Disease Progression in a Cohort of RR-MS Sicilian Patients

“…From our study, it was found that the CCR5Δ32 allele frequency in Sicilian RR-MS patients ( fr = 0.06) is comparable to that found in the general population ( fr = 0.06) [40]. Our results, on the one hand, are consistent with those of some studies [20] and, on the other hand, are not confirmed by other studies [29, 31].…”

CCR5 and p53 codon 72 gene polymorphisms: Implications in breast cancer development

“…CCR5 plays an important role in the recruitment of macrophages, monocytes and T cells at inflammation sites (23), driving an immune response involving a Th1 cytokine pattern (24). CCR5D32 deletion may alter the expression or function of the protein product (25).…”