title: Protective Role of BST2 Polymorphisms in Mother-to-Child Transmission of HIV-1 and Adult AIDS Progression.
abstract: Bone marrow stromal cell antigen-2 (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 (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 single nucleotide polymorphism analyses were performed in 2 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 rs919266 GA showed slower progression to AIDS (P = 0.033). Despite the influence of rs919266 and rs9576 on BST2 expression being still undetermined, a preventive role by BST2 polymorphisms was found during HIV-1 infection.
authors.affiliation: *Department of Genetics, Federal University of Pernambuco, Recife, Brazil; †Institute for Maternal and Child Health, Istituto Di Ricovero e Cura a Carattere Scientifico "Burlo Garofolo," Trieste, Italy; ‡Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil; §Fundação Estadual de Produção e Pesquisa em Saúde, Porto Alegre, Brazil; ‖Infectious Diseases Section, Hospital Nossa Senhora da Conceição, Porto Alegre, Brazil; and ¶Department of Epidemiology, Columbia University, New York, NY.
authors.forename: Anselmo J
authors.initials: AJ
authors.lastname: Kamada
authors.forename: Anna M
authors.initials: AM
authors.lastname: Bianco
authors.forename: Luisa
authors.initials: L
authors.lastname: Zupin
authors.forename: Martina
authors.initials: M
authors.lastname: Girardelli
authors.forename: Maria C C
authors.initials: MC
authors.lastname: Matte
authors.forename: Rúbia Marília de
authors.initials: RM
authors.lastname: Medeiros
authors.forename: Sabrina Esteves de Matos
authors.initials: SE
authors.lastname: Almeida
authors.forename: Marineide M
authors.initials: MM
authors.lastname: Rocha
authors.forename: Ludovica
authors.initials: L
authors.lastname: Segat
authors.forename: José A B
authors.initials: JA
authors.lastname: Chies
authors.forename: Louise
authors.initials: L
authors.lastname: Kuhn
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D058851:GPI-Linked Proteins / Q000235:genetics; D015497:HIV-1 / Q000254:growth & development / Q000502:physiology*; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D007231:Infant, Newborn; D018445:Infectious Disease Transmission, Vertical; D008297:Male; D009035:Mothers; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious / Q000235:genetics*; D016032:Randomized Controlled Trials as Topic; D012189:Retrospective Studies; D015024:Zambia; D000074010:Bone Marrow Stromal Antigen 2
chemical_list: D015703:Antigens, CD; D058851:GPI-Linked Proteins; C094572:BST2 protein, human; D000074010:Bone Marrow Stromal Antigen 2