Protective Role of BST2 Polymorphisms in Mother-to-Child Transmission of HIV-1 and Adult AIDS Progression

Abstract

BST-2/Tetherin is a restriction factor that prevents Human immunodeficiency virus type 1 (HIV-1) release from infected cells and mediates pro-inflammatory cytokine production. This study investigated the risk conferred by single nucleotide polymorphisms (SNPs; rs919266, rs9192677 and rs9576) at BST-2 coding gene (BST2) in HIV-1 mother-to-child transmission and in disease progression. Initially, 101 HIV-1+ pregnant women and 331 neonates exposed to HIV-1 from Zambia were enrolled. Additional BST2 SNPs analyses were performed in two cohorts with acquired immunodeficiency syndrome (AIDS) progression: an adult Brazilian cohort (37 rapid, 30 chronic and 21 long-term non-progressors) and an Italian pediatric cohort (21 rapid and 67 slow progressors). The rs9576A allele was nominally associated with protection during breastfeeding (p=0.019), and individuals carrying rs919266GA showed slower progression to AIDS (p=0.033). Despite the influence of rs919266 and rs9576 in BST2 expression is still undetermined, a preventive role by BST2 polymorphisms was found during HIV-1 infection.

Type I interferon and HIV: Subtle balance between antiviral activity, immunopathogenesis and the microbiome

“…IFNα, IFNβ, IFNκ, IFNε, IFNω) or "pseudo"-genes (13 different IFNα subtypes), numerous type I IFN signaling pathway components and ISGs [16]. However, several studies have pointed out the importance of SNP related to the type I IFN pathways on the clinical outcome of HIV-1 disease [103][104][105][106][107][108][109][110][111][112][113][114][115][116][117]. Rapid progression of HIV-1 infection, altered viral load and CD4T cell count were associated with TLR9 polymorphisms [103][104][105].…”

“…Several studies have reported controversial results on the influence of retroviral restriction factor SNPs (e.g. APOBEC3, SAMHD1, and BST2) on HIV-1 disease status [110][111][112][113][114][115][116][117]. Although the clinical relevance of these genetic variants during HIV-1 infection has been emphasized, their biological significance has seldom been examined [45,118].…”

Impact of cellular restriction gene (TRIM5α, BST‐2) polymorphisms on the acquisition of HIV‐1 and disease progression

“…Insertion/deletion (indels) polymorphisms in the promoter region (rs3217318 and rs10415893) of the BST2 gene were associated with lower transcriptional activity and faster disease progression in a Spanish cohort . The BST2 rs9576A allele was nominally associated with protection during breastfeeding ( p = 0.019) and individuals with the rs919266 GA genotype showed slower disease progression to AIDS ( p = 0.033) …”

“…34 The BST2 rs9576A allele was nominally associated with protection during breastfeeding (p = 0.019) and individuals with the rs919266 GA genotype showed slower disease progression to AIDS (p = 0.033). 37 To date, the prevalence of the TRIM5α rs11038628 G249D polymorphism has described in HIV-infected individuals from India. 22 So far, the effect of TRIM5α (rs10838525, rs7127617 and rs904375) and BST2 (rs3217318 and rs71694748) polymorphisms in HIVinfected and healthy individuals has not been examined in India.…”

Association of interleukin‐27 gene polymorphisms with susceptibility to HIV infection and disease progression

“…Moreover, polymorphisms of some genes such as BST2,15 BSSL,16 APO-BEC3H17 have been proposed to be related to the progression of HIV infection. We therefore hypothesize that IL-27 gene polymorphism is associated with HIV infection and its progression.…”