Protective role of BST2 polymorphisms in mother-to-child transmission of HIV-1 and adult AIDS progression

Anselmo Jiro Kamada, Anna Monica Bianco, Luisa Zupin, Martina Girardelli, Maria Cristina Cotta Matte, Rúbia Marília De Medeiros, Sabrina Esteves De Matos Almeida, Marineide Melo Rocha, Ludovica Segat, José Artur Bogo Chies, Louise Kuhn, Sergio Crovella

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
JournalJournal of Acquired Immune Deficiency Syndromes
Publication statusAccepted/In press - Feb 13 2016

ASJC Scopus subject areas

  • Infectious Diseases
  • Pharmacology (medical)


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