The role of a mutant CCR5 allele in HIV-1 transmission and disease progression

Yaoxing Huang, William A. Paxton, Steven M. Wolinsky, Avidan U. Neumann, Linqi Zhang, Tian He, Stanley Kang, Daniel Ceradini, Zhanqun Jin, Karina Yazdanbakhsh, Kevin Kunstman, Daniel Erickson, Elizabeth Dragon, Nathaniel R. Landau, John Phair, David D. Ho, Richard A. Koup

Research output: Contribution to journalArticlepeer-review

1227 Scopus citations


A 32-nucleotide deletion (Δ32) within the β-chemokine receptor 5 (CCR5) gene has been described in subjects who remain uninfected despite extensive exposure to HIV-1. This allele was found to be common in the Caucasian population with a frequency of 0.0808, but was not found in people of African or Asian ancestry. To determine its role in HIV-1 transmission and disease progression, we analyzed the CCR5 genotype of 1252 homosexual men enrolled in the Chicago component of the Multicenter AIDS Cohort Study (MACS). No infected participant was found to be homozygous for the Δ32 allele, whereas 3.6% of at-risk but uninfected Caucasian participants were homozygous, showing the highly protective role of this genotype against sexual acquisition of HIV-1. No evidence was found to suggest that heterozygotes were protected against HIV-1 infection, but a limited protective role against disease progression was noted. The Δ32 allele of CCR5 is therefore an important host factor in HIV-1 transmission and pathogenesis.

Original languageEnglish
Pages (from-to)1240-1243
Number of pages4
JournalNature Medicine
Issue number11
StatePublished - Nov 1996
Externally publishedYes


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