Huang Y, Paxton W A, Wolinsky S M, Neumann A U, Zhang L, He T, Kang S, Ceradini D, Jin Z, Yazdanbakhsh K, Kunstman K, Erickson D, Dragon E, Landau N R, Phair J, Ho D D, Koup R A
Aaron Diamond AIDS Research Center, New York, New York, USA.
Nat Med. 1996 Nov;2(11):1240-3. doi: 10.1038/nm1196-1240.
A 32-nucleotide deletion (delta 32) within the beta-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 CCRS 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 delta 32 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 delta 32 allele of CCR5 is therefore an important host factor in HIV-1 transmission and pathogenesis.
在尽管广泛接触HIV-1却仍未感染的个体中，已发现β趋化因子受体5（CCR5）基因存在一个32个核苷酸的缺失（δ32）。该等位基因在白种人群中较为常见，频率为0.0808，但在非洲或亚洲血统的人群中未发现。为了确定其在HIV-1传播和疾病进展中的作用，我们分析了参与多中心艾滋病队列研究（MACS）芝加哥部分的1252名同性恋男性的CCR5基因型。未发现感染参与者为δ32等位基因纯合子，而3.6%有感染风险但未感染的白种参与者为纯合子，这表明该基因型对通过性接触感染HIV-1具有高度保护作用。未发现有证据表明杂合子对HIV-1感染有保护作用，但注意到其对疾病进展有有限的保护作用。因此，CCR5的δ32等位基因是HIV-1传播和发病机制中的一个重要宿主因素。
