CCR5Δ32 genotypes in a German HIV-1 seroconverter cohort and report of HIV-1 infection in a CCR5Δ32 homozygous individual

Abstract

Background: Homozygosity (Δ32/Δ32 for the 32 bp deletion in the chemokine receptor 5 (CCR5) gene is associated with strong resistance against HIV infection Heterozygosity is associated with protection of HIV-1 diseases progression. Methodology/Principal Findings: We genotyped a population of 737 HIV-positive adults and 463 healthy controls for the CCR5Δ32 deletion and found heterozygous frequencies of 16.2% (HIV-negative) and 17.5% (HIV-positive) among Caucasian individuals. Analysis of CCR5Δ32 influences on disease progression showed notably lower viral setpoints and a longer time to a CD4 count of <200 λ -1 in seroconverters heterozygous for the deletion. Furthermore, we identified one HIV-positive man homozygous for the Δ32 deletion. Conclusions/Sgnificance: the protective effect of CCR5 Δ32 heterozygosity is confimed in a large cohort of German seroconverters. The HIV-infected CCR5 Δ32 homozygous individual, however, displays extremely rapid disease progression. This is the 12th case of HIV-infection in this genotype described worldwide. © 2008 Oh et al.