Prognostic value of the stromal cell-derived factor 1 3′A mutation in pediatric human immunodeficiency virus type 1 infection

A mutation of the sromal cell-derived factor 1 gene (SDF-1 3′A) was shown to protect adults exposed to human immunodeficiency virus type 1 (HIV-1) from infection and to affect HIV disease progression in adults. The presence of this mutation in HIV-1-infected Kenyan children did not predict mother-to-child virus transmission. The SDF-1 3′A polymorphism was studied in 256 HIV-1-infected, 118 HIV-1-exposed but uninfected, and 170 unexposed and uninfected children of Italian origin, and the frequency of SDF-1 3′A heterozygosity and homozygosity in each of the 3 groups was similar. Of the 256 HIV-1-infected children, 194 were regularly followed up and were assigned to groups according to disease progression. The frequency of the SDF-1 3′A allele was substantially lower among children with long-term nonprogression than among children with rapid (P = .0329) or delayed (P = .0375) progression. We show that the presence of the SDF-1 3′A gene correlates with accelerated disease progression in HIV-1-infected children born to seropositive mothers but does not protect against mother-to-child HIV-1 transmission.