Risk for HIV-1 infection associated with a common CXCL12 (SDF1) polymorphism and CXCR4 variation in an African population

CXC chemokine ligand 12 (CXCL 12), or stromal cell-derived factor 1 (SDF1), is file only known natural ligand for the HIV-1 coreceptor, CXC chemokine receptor 4 (CXCR4). A single nucleotide polymorphism (SNP) in the CXCL12 gene (SDF1-3'A) has been associated with disease progression to AIDS in sonic studies, but not others. Mutations in the CXCR4 gene are generally rare and have not been implicated in HIV-1/AIDS pathogenesis. This Study analyzed the SDF1-3'A SNP and performed mutation screening for polymorphic markers in the CXCR4 gene to determine the presence or absence of significant associations with susceptibility to HIV-1 infection. The study consisted of 257 HIV-1-seropositive patients and 113 HIV-1-seronegative controls representing a sub-Saharan African population belonging to the Xhosa ethnic group of south Africa. The SDF1-3'A SNP was associated with ail increased risk for HIV-1 infection (P = 0.0319) whereas no significant association was observed between the Occurrence of the SDF1-3'A SNP and increased or decreased plasma levels of CXCL12. Comprehensive Mutation analysis of the CXCR4 gene confirmed a high degree of genetic conservation within the coding region of this ancient Population.