Petersen, Desiree C.Glashoff, Richard H.Sherestha, SadeepBergeron, JulieLaten, AnetteGold, BertJanse van Rensburg, EstrelitaDean, MichaelHayes, Vanessa M.2007-07-272007-07-272005-12-15Petersen, DC, Glashoff, RH, Shrestha, S, Bergeron, J, Laten, A, Gold, B, Janse van Rensburg, E, Dean, M & Hayes, VM 2005,'Risk for HIV-1 infection associated with a common CXCL12 (SDF1) polymorphism and conservation of CXCR4 in an African population', Journal of Acquired Immune Deficiency Syndrome, vol. 40, no. 5, pp. 521-526.[http://www.lww.com/product/?1525-4135]1525-4135http://hdl.handle.net/2263/3169CXC chemokine ligand 12 (CXCL12), or stromal cell–derived factor 1 (SDF1), is the 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 some 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 an 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.11637 bytesapplication/pdfenLippincott Williams and Wilkins. The publisher prohibits open access to the full text of this articleCXC chemokine ligand 12 (CXCL12)CXC chemokineSDF1-3'A single-nucleotide polymorphismHIV-1 infection riskAfrican populationHIV infections -- ResearchAIDS (Disease) -- Sub-Saharan AfricaArticle