CCR5Delta32 genotypes in a German HIV-1 seroconverter cohort and report of HIV-1 infection in a CCR5Delta32 homozygous individual.

CCR5Delta32 genotypes in a German HIV-1 seroconverter cohort and report of HIV-1 infection in a CCR5Delta32 homozygous individual.
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DOI:
10.1371/journal.pone.0002747
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发表时间:
2008-07-23
期刊:
影响因子:
3.7
通讯作者:
Hamouda O
Hamouda O
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Oh DY;Jessen H;Kücherer C;Neumann K;Oh N;Poggensee G;Bartmeyer B;Jessen A;Pruss A;Schumann RR;Hamouda O

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趋化因子受体 5 (CCR5) 基因中 32 bp 缺失的纯合性 (Δ32/Δ32) 与对 HIV 感染的强大抵抗力相关。杂合性与 HIV-1 疾病进展的保护相关。我们对 737 名 HIV 阳性成年人和 463 名健康对照人群进行了 CCR5Δ32 缺失的基因分型,发现白种人个体的杂合频率分别为 16.2%(HIV 阴性)和 17.5%(HIV 阳性)。 CCR5Δ32 对疾病进展影响的分析表明,在删除杂合子的血清转化者中,病毒设定点明显较低,并且 CD4 计数 <200 µl−1 的时间较长。此外,我们还发现了一名 HIV 阳性男性,其具有 Δ32 缺失纯合子。 CCR5 Δ32 杂合性的保护作用在大量德国血清转化者中得到证实。然而,感染 HIV 的 CCR5 Δ32 纯合个体却表现出极其快速的疾病进展。这是全球第 12 例该基因型 HIV 感染病例。
Homozygosity (Δ32/Δ32) 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. We genotyped a population of 737 HIV-positive adults and 463 healthy controls for the CCR5Δ32 deletion and found heterozygous frequencies of 16.2% (HIV-negative) and 17.5% (HIV-positive) among Caucasian individuals. Analysis of CCR5Δ32 influence on disease progression showed notably lower viral setpoints and a longer time to a CD4 count of <200 µl−1 in seroconverters heterozygous for the deletion. Furthermore, we identified one HIV-positive man homozygous for the Δ32 deletion. The protective effect of CCR5 Δ32 heterozygosity is confimed in a large cohort of German seroconverters. The HIV-infected CCR5 Δ32 homozygous individual, however, displays extremely rapid disease progression. This is the 12th case of HIV-infection in this genotype described worldwide.
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