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Haplotype analysis of the SDF-1 (CXCL12) gene in a longitudinal HIV-1/AIDS cohort study

  1. Author:
    Modi, W. S.
    Scott, K.
    Goedert, J. J.
    Vlahov, D.
    Buchbinder, S.
    Detels, R.
    Donfield, S.
    O'Brien, S. J.
    Winkler, C.

  2. Author Address

    NCI, SAIC Frederick, Frederick, MD 21702 USA. NCI, Viral Epidemiol Branch, Div Canc Epidemiol & Genet, Rockville, MD USA. Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Baltimore, MD USA. San Francisco Dept Publ Hlth, San Francisco, CA USA. Univ Calif Los Angeles, Sch Publ Hlth, Los Angeles, CA 90024 USA. Rho Inc, Chapel Hill, NC USA. NCI, Lab Genom Divers, Frederick, MD 21701 USA Winkler, C, NCI, SAIC Frederick, Frederick, MD 21702 USA
    1. Year: 2005
    2. Date: DEC
  2. Journal: Genes and Immunity
    1. 6
    2. 8
    3. Pages: 691-698
  4. Type of Article: Article
  1. Abstract:

    The stromal-derived factor-1 (SDF-1) chemokine gene encodes the only natural ligand for CXCR4, the coreceptor for the pathogenic X4 HIV-1 strains. A single-nucleotide polymorphism ( SNP) in the 30 untranslated region (SDF1-30A = rs1801157) of SDF-1 was reported to be protective against infection and progression in some, but not other, epidemiological studies. To identify additional alleles that may influence HIV-1 infection and progression to AIDS, nine SNPs ( including rs1801157) spanning 20.2 kb in and around the SDF-1 gene were genotyped in over 3000 African American ( AA) and European American ( EA) participants enrolled in five longitudinal HIV-1/AIDS natural cohort studies. Six or five haplotypes were present at frequencies greater than 5% in AA or EA, respectively. Six of the nine SNPs occur on only one common haplotype (45%), while the remaining three SNPs were found on multiple haplotypes, suggesting a complex history of recombination. Among EA, rs754618 was associated with an increased risk of infection (OR = 1.50, P = 0.03), while rs1801157 (SDF1-30A) was associated with protection against infection (OR = 0.63, P = 0.01). In the MACS cohort, rs1801157 was associated with AIDS-87 (RH = 0.31, P = 0.02) and with death (RH = 0.18, P = 0.02). Significant associations to a single disease outcome were found for two SNPs and one haplotype in AA

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  2. WOS: 000233656800007

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