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

Academic Article

Abstract

  • CXC 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.
  • Keywords

  • African Continental Ancestry Group, Chemokine CXCL12, Chemokines, CXC, Genetic Variation, Genotype, HIV Infections, HIV-1, Humans, Polymorphism, Single Nucleotide, Receptors, CXCR4, Risk Factors, South Africa
  • Author List

  • Petersen DC; Glashoff RH; Shrestha S; Bergeron J; Laten A; Gold B; van Rensburg EJ; Dean M; Hayes VM
  • Start Page

  • 521
  • End Page

  • 526
  • Volume

  • 40
  • Issue

  • 5