CCR5 promoter polymorphisms and HIV-1 perinatal transmission in Brazilian children

The frequencies of four CCR5 promoter polymorphisms, and of the Δ32 deletion, have been evaluated in Brazilian HIV-1 positive (HIV+) and HIV-1 negative (HIV−) children, both born from HIV-1 positive mothers and healthy controls (HC), with the aim of investigating whether CCR5 polymorphisms could be associated to vertical transmission of HIV-1. One hundred and six HIV-1 positive children and 70 HIV-1 negative children were enrolled from impoverished areas of Recife (Brazil). We recruited also as healthy controls 104 uninfected children from the same ethnic background, matched for age and known to be not at risk for HIV-1 infection. CCR5 polymorphisms were detected by PCR amplification and direct sequencing. Although no significative divergence was found for CCR5 Δ32, CCR5-59356-C/T and CCR5-59653 C/T polymorphisms, the frequency of CCR5-59353-T/C and CCR5-59402-A/G genotypes differed among HIV+, HIV− and HC children. The presence of the CCR5-59353-TT genotype indicated a trend for increased risk of vertical transmission of HIV-1 infection in Brazilian children, while the presence of the CCR5-59402-AA genotype is suggestive for a protective effect against HIV-1 vertical transmission.