PLoS ONE (Jan 2008)

CCR5Delta32 genotypes in a German HIV-1 seroconverter cohort and report of HIV-1 infection in a CCR5Delta32 homozygous individual.

  • Djin-Ye Oh,
  • Heiko Jessen,
  • Claudia Kücherer,
  • Konrad Neumann,
  • Nari Oh,
  • Gabriele Poggensee,
  • Barbara Bartmeyer,
  • Arne Jessen,
  • Axel Pruss,
  • Ralf R Schumann,
  • Osamah Hamouda

DOI
https://doi.org/10.1371/journal.pone.0002747
Journal volume & issue
Vol. 3, no. 7
p. e2747

Abstract

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BACKGROUND: Homozygosity (Delta32/Delta32) 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 CCR5Delta32 deletion and found heterozygous frequencies of 16.2% (HIV-negative) and 17.5% (HIV-positive) among Caucasian individuals. Analysis of CCR5Delta32 influence on disease progression showed notably lower viral setpoints and a longer time to a CD4 count of <200 microl(-1) in seroconverters heterozygous for the deletion. Furthermore, we identified one HIV-positive man homozygous for the Delta32 deletion. CONCLUSIONS/SIGNIFICANCE: The protective effect of CCR5 Delta32 heterozygosity is confirmed in a large cohort of German seroconverters. The HIV-infected CCR5 Delta32 homozygous individual, however, displays extremely rapid disease progression. This is the 12th case of HIV-infection in this genotype described worldwide.