德国HIV-1血清转化者队列中的CCR5Delta32基因型以及一名CCR5Delta32纯合个体的HIV-1感染报告。
CCR5Delta32 genotypes in a German HIV-1 seroconverter cohort and report of HIV-1 infection in a CCR5Delta32 homozygous individual.
作者信息
Oh Djin-Ye, Jessen Heiko, Kücherer Claudia, Neumann Konrad, Oh Nari, Poggensee Gabriele, Bartmeyer Barbara, Jessen Arne, Pruss Axel, Schumann Ralf R, Hamouda Osamah
机构信息
Institute of Microbiology and Hygiene, Charité University Medical Center, Berlin, Germany.
出版信息
PLoS One. 2008 Jul 23;3(7):e2747. doi: 10.1371/journal.pone.0002747.
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.
METHODOLOGY/PRINCIPAL FINDINGS: 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/SIGNIFICANCE: 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.
背景
趋化因子受体5（CCR5）基因32bp缺失的纯合子（Delta32/Delta32）与对HIV感染的强抗性相关。杂合子与HIV-1疾病进展的保护作用相关。
方法/主要发现：我们对737名HIV阳性成人和463名健康对照人群进行CCR5Delta32缺失基因分型，发现在白种人中，杂合子频率在HIV阴性个体中为16.2%，在HIV阳性个体中为17.5%。对CCR5Delta32对疾病进展影响的分析显示，在该缺失杂合子的血清转化者中，病毒载量显著更低，且达到CD4细胞计数<200微升⁻¹的时间更长。此外，我们鉴定出一名Delta32缺失纯合子的HIV阳性男性。
结论/意义：CCR5 Delta32杂合子的保护作用在一大群德国血清转化者中得到证实。然而，HIV感染的CCR5 Delta32纯合子个体疾病进展极快。这是全球范围内描述的该基因型第12例HIV感染病例。
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