CCR5Δ32 Genotypes in a German HIV-1 Seroconverter Cohort and Report of HIV-1 Infection in a CCR5Δ32 Homozygous Individual

2008 
Background: Homozygosity (D32/D32) 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 disease progression. Methodology/Principal Findings: We genotyped a population of 737 HIV-positive adults and 463 healthy controls for the CCR5D32 deletion and found heterozygous frequencies of 16.2% (HIV-negative) and 17.5% (HIV-positive) among Caucasian individuals. Analysis of CCR5D32 influence on disease progression showed notably lower viral setpoints and a longer time to a CD4 count of ,200 ml 21 in seroconverters heterozygous for the deletion. Furthermore, we identified one HIV-positive man homozygous for the D32 deletion. Conclusions/Significance: The protective effect of CCR5 D32 heterozygosity is confimed in a large cohort of German seroconverters. The HIV-infected CCR5 D32 homozygous individual, however, displays extremely rapid disease progression. This is the 12th case of HIV-infection in this genotype described worldwide.
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