CCR5Delta32 genotypes in a German HIV-1 seroconverter cohort and report of HIV-1 infection in a CCR5Delta32 homozygous individual.
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.
Oh
Djin-Ye
DY
Institute of Microbiology and Hygiene, Charité University Medical Center, Berlin, Germany. doh@tuftsmedicalcenter.org
Jessen
Heiko
H
Kücherer
Claudia
C
Neumann
Konrad
K
Oh
Nari
N
Poggensee
Gabriele
G
Bartmeyer
Barbara
B
Jessen
Arne
A
Pruss
Axel
A
Schumann
Ralf R
RR
Hamouda
Osamah
O
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*
D019713:Receptors, CCR5