title: A polymorphism in PRF1 gene is associated with HIV-1 vertical transmission in Brazilian children.
abstract: We investigated the possible association between PRF1 gene polymorphisms and HIV-1 vertical transmission in Brazilian children by analyzing PRF1 gene coding and untranslated regions in 173 perinatally infected children (HIV+), 51 exposed uninfected (HIV-), and 171 HIV-unexposed uninfected children. Seven single nucleotide polymorphisms were identified in our samples. The rs885822 C allele and CC genotype were significantly more frequent in HIV-negative than in HIV-positive patients and associated with a protective effect toward HIV vertical transmission.
authors.affiliation: Genetic Service, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
authors.forename: Lara
authors.initials: L
authors.lastname: Padovan
authors.forename: Ludovica
authors.initials: L
authors.lastname: Segat
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D001938:Brazil; D005260:Female; D015658:HIV Infections / Q000235:genetics* / Q000635:transmission*; D015497:HIV-1; D006801:Humans; D007231:Infant, Newborn; D018445:Infectious Disease Transmission, Vertical / Q000517:prevention & control*; D008297:Male; D054353:Perforin; D011110:Polymorphism, Genetic / Q000235:genetics*; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics*; D011247:Pregnancy
chemical_list: C510468:PRF1 protein, human; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin