Associations of common variants in the BST2 region with HIV-1 acquisition in African American and European American people who inject drugs

Dana B. Hancock, Nathan C. Gaddis, Joshua L. Levy, Laura J. Bierut, Alex H. Kral, Eric O. Johnson

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Objective: The bone marrow stromal cell antigen 2 (BST2) gene encodes a host restriction factor that acts as an innate immune sensor of HIV-1 exposure and suppresses release of HIV-1 particles. We aimed to identify associations of variants in the BST2 gene region with HIV-1 acquisition and disease progression. Design/methods: Using HIV+ cases and HIV- controls from the Urban Health Study (n = 3136 African Americans and European Americans who inject drugs), we tested 470 variants in BST2 and its flanking regions for association with HIV-1 acquisition and log-transformed viral load. Results: We found that the single nucleotide polymorphism (SNP) rs113189798 surpassed the P value threshold corrected for multiple testing. The rs113189798-G allele (frequency = 16% in African Americans, 4% in European Americans) was associated with increased HIV-1 acquisition risk (meta-analysis P = 1.43 × 10 -4): odds ratio (95% confidence interval) of 1.22 (1.01-1.49) in African Americans and 2.17 (1.43-3.33) in European Americans. We also found that the previously reported rs12609479-A allele (frequency = 35% in African Americans, 81% in European Americans) was nominally associated with decreased risk of acquiring HIV-1 in our study (meta-analysis P = 0.036). Rs12609479-A is predicted to increase BST2 expression and thereby decrease risk of acquiring HIV-1. Rs113189798 and rs12609479 were only weakly correlated [square of the correlation coefficient (r 2) = 0.2-0.4] and represented distinct association signals. None of our tested variants were significantly associated with log-transformed viral load among the HIV-infected cases. Conclusion: Our findings support BST2 as a genetic susceptibility factor for HIV-1 acquisition: identifying a novel SNP association for rs13189798 and linking the previously reported regulatory SNP rs12609479 to HIV-1 acquisition.

Original languageEnglish
Pages (from-to)767-777
Number of pages11
Issue number7
StatePublished - Apr 24 2015


  • HIV-1
  • genetic association study
  • innate immunity
  • single nucleotide polymorphisms
  • tetherin


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