CCR5D32 Genotypes in a German HIV-1 Seroconverter Cohort and Report of HIV-1 Infection in a CCR5D32 Homozygous Individual

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 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. Citation: Oh D-Y, Jessen H, Kücherer C, Neumann K, Oh N, et al. (2008) CCR5D32 Genotypes in a German HIV-1 Seroconverter Cohort and Report of HIV-1 Infection in a CCR5D32 Homozygous Individual. PLoS ONE 3(7): e2747. doi:10.1371/journal.pone.0002747 Editor: Srikanth Tripathy, National AIDS Research Institute, India Received May 12, 2008; Accepted June 29, 2008; Published July 23, 2008 Copyright: 2008 Oh et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Funding: D.-Y. O. is a recipient of a Rahel Hirsch Grant of the Charité-Universitätsmedizin Berlin. R.R.S. was supported by grants obtained from the Deutsche Forschungsgemeinschaft (DFG). Competing Interests: The authors have declared that no competing interests exist. * E-mail: [email protected] ¤ Current address: The Floating Hospital for Children at Tufts Medical Center, Boston, Massachusetts, United States of America . These authors contribute equally to this work.