title: CCR5Delta32 genotypes in a German HIV-1 seroconverter cohort and report of HIV-1 infection in a CCR5Delta32 homozygous individual.
abstract: 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.
  
  
  RESULTS
  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
  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.
authors.affiliation: Institute of Microbiology and Hygiene, Charité University Medical Center, Berlin, Germany. doh@tuftsmedicalcenter.org
authors.forename: Djin-Ye
authors.initials: DY
authors.lastname: Oh
authors.forename: Heiko
authors.initials: H
authors.lastname: Jessen
authors.forename: Claudia
authors.initials: C
authors.lastname: Kücherer
authors.forename: Konrad
authors.initials: K
authors.lastname: Neumann
authors.forename: Nari
authors.initials: N
authors.lastname: Oh
authors.forename: Gabriele
authors.initials: G
authors.lastname: Poggensee
authors.forename: Barbara
authors.initials: B
authors.lastname: Bartmeyer
authors.forename: Arne
authors.initials: A
authors.lastname: Jessen
authors.forename: Axel
authors.initials: A
authors.lastname: Pruss
authors.forename: Ralf R
authors.initials: RR
authors.lastname: Schumann
authors.forename: Osamah
authors.initials: O
authors.lastname: Hamouda
mesh_terms: D000328:Adult; D015331:Cohort Studies; D018450:Disease Progression; D005260:Female; D005838:Genotype; D005858:Germany; D015658:HIV Infections / Q000097:blood / Q000235:genetics*; D006679:HIV Seropositivity / Q000235:genetics*; D015497:HIV-1 / Q000378:metabolism*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D019713:Receptors, CCR5 / Q000235:genetics* / Q000502:physiology*
chemical_list: D019713:Receptors, CCR5