Genetic susceptibility to HIV infection was previously proven to be influenced by some chemokine receptor polymorphisms clustering on chromosome 3p21. Here the influence of 5 genetic variants was studied: Δ32CCR5, G(-2459)ACCR5, G190ACCR2, G744ACX3CR1 and C838TCX3CR1. They were screened in a cohort of 168 HIV-1 positive adults [HIV(+) group] and 151 newborns [control group] from northwestern Poland. PCR-RFLP was performed to screen for the variants (except for A32CCR5 polymorphism, where PCR fragment size was sufficient to identify the alleles) and then electrophoresed on agarose gel to determine fragment size. Distribution of genotypes and alleles was not significantly different between the groups except for theCCR5 polymorphisms, with the A32 allele and the (-2459)ACCR5 allele more frequent among neonates than in the HIV(+) group. No Δ32/Δ32 homozygotes were found in the HIV(+) group, but 16.1% were Δ32/wt heterozygotes. In the control group, 1.3% were Δ32/Δ32 homozygotes and 26.0% were Δ32/wt heterozygotes. Linkage between the chemokine polymorphisms was calculated using the most informative loci for haplotype reconstruction. Haplotypes containing Δ32 CCR5,190GCCR2 and 744ACX3CR1 were found to be significantly more common in the control group. This suggests an association between these haplotypes and resistance to HIV-1 infection.

中文翻译：

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趋化因子受体基因的序列变异和对 HIV-1 感染的易感性。

先前已证明对 HIV 感染的遗传易感性受聚集在染色体 3p21 上的一些趋化因子受体多态性的影响。此处研究了 5 种遗传变异的影响：Δ32 CCR5、G(-2459)A CCR5、G190A CCR2、G744A CX3CR1和 C838T CX3CR1。他们在来自波兰西北部的 168 名 HIV-1 阳性成人 [HIV(+) 组] 和 151 名新生儿 [对照组] 中进行了筛查。进行 PCR-RFLP 以筛选变体（A32 CCR5除外多态性，其中 PCR 片段大小足以识别等位基因），然后在琼脂糖凝胶上电泳以确定片段大小。除CCR5多态性外，基因型和等位基因的分布在各组之间没有显着差异，A32 等位基因和 (-2459)A CCR5等位基因在新生儿中比在 HIV (+) 组中更常见。HIV(+)组未发现Δ32/Δ32纯合子，但16.1%为Δ32/wt杂合子。在对照组中，1.3% 是 Δ32/Δ32 纯合子，26.0% 是 Δ32/wt 杂合子。使用信息最丰富的基因座计算趋化因子多态性之间的联系以进行单倍型重建。包含 Δ32 CCR5、190G CCR2和 744A CX3CR1 的单倍型发现在对照组中明显更常见。这表明这些单倍型与对 HIV-1 感染的抵抗力之间存在关联。