摘要目的 探索DC-SIGNR基因多态性对中国汉族人群人类免疫缺陷病毒-1(human immunodeficiency virus-1,HIV-1)病毒易感性的影响.方法 用聚合酶链反应、琼脂糖凝胶电泳结合测序对345例HIV-1血清阳性感染者及468例H1V-1血清阴性高危人群的DC-SIGNR基因绞链区重复序列分型,然后用卡方检验检测DC-SIGNR基因各亚型在不同人群组中出现的频率.结果 共发现DC-SIGNR基因14个基因型和5种等位基因,其中等位基因7出现的频率最高(67.1%),明显高于美国白人(67.1% vs.46.0%,P<0.01).HIV-1感染组7/7基因型的出现频率明显低于高危人群组(38.55% vs.48.29%,P=0.0057),而HIV-1感染组的9/5基因型的出现频率明显高于高危人群组(4.35% vs.1.07%,P=0.0029).结论 中国人群DC-SIGNR基因多态性分布有着独特的遗传学特征,中国人群中DC-SIGNR基因型9/5可能增加对HIV-1的易感性.

abstractsObjective To explore the association of the polymorphism of homologue of dendritic cell-specific intercellular adhesion molecule-3 (ICAM-3) grabbing nonintegrin (DC-SIGN related, DC-SIGNR) gene with the susceptibility to HIV-1 infection. Methods The distribution of the DC-SIGNR variants in the tandem repeat region and their association with HIV-1 infection in a cohort composed of 345 HIV-1 seropositive and 468 high-risk HIV-1 seronegative individuals was examined. Results There are 14 genotypes and 5 alleles in the DC-SIGNR repeat regions in the cohort.Although the most common DC-SIGNR allele among Chinese Han population and the Caucasian population is 7, it was found in a higher frequency in the Chinese than in Caucasians (67.1% vs.46.0%, P <0.01 ). HIV-1 seropositive individuals had a lower frequency of the genotype 7/7 than the high-risk seronegative individuals (38.55 % vs.48.29%,P =0.0057), bui a higher frequency of genotype 9/5 (4.35% vs.1.07%, P =0.0029). ConclusionThese results suggest that the tandem-repeat polymorphisms of the DC-SIGNR gene in the Chinese Han population exhibit unique genetic characteristics previously unrecognized in the Caucasian population. Genotype 9/5 seems to be a risk factor for HIV-1 infection in the Chinese population.