Luisa Zupin1, Vania Polesello2, Ludovica Segat2, Anselmo Jiro Kamada3, Louise Kuhn4, Sergio Crovella2. 1. a Department of Medicine, Surgery and Health Sciences , University of Trieste , Trieste , Italy. 2. b Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" , Trieste , Italy. 3. c Department of Genetics , Federal University of Pernambuco , Recife , Brazil. 4. d Gertrude H. Sergievsky Center and Department of Epidemiology, Mailman School of Public Health , Columbia University , NY , USA.
Abstract
Introduction: Human Beta Defensin-1 (hBD-1) is a component of the innate immune system, the first line of defence against pathogens, already reported as involved in the susceptibility to HIV-1 infection and HIV-1 mother-to-child transmission (MTCT) in different populations. We investigated the role of DEFB1 gene (encoding for hBD-1) functional polymorphisms in the susceptibility to HIV-1 MTCT in a population from Zambia. Methods: Four selected polymorphisms within DEFB1 gene, three at the 5' untranslated region (UTR), namely -52G > A (rs1799946), -44C > G (rs1800972) and -20G > A (rs11362) and one in the 3'UTR, c.*87A > G (rs1800972), were genotyped in 101 HIV-1 positive mothers (26 transmitters -27% and 75 not transmitters -73%) and 331 infants born to HIV-1 infected mothers (85 HIV-1 positive -26% and 246 exposed but not infected -74%). Results:DEFB1 c.*87-A allele was more frequent among HIV- children with respect to HIV+ (with intrauterine MTCT). Concerning DEFB1 haplotypes, GCGA haplotype resulted more represented in HIV- than HIV+ infants and DEFB1 ACGG haplotype presented increased frequency in HIV- children respect to HIV+ (with intra-partum MTCT) (p = .02, p = .002 and p = .006, respectively). Conclusions: DEFB1 polymorphisms were significantly associated with decreased risk of HIV-1 infection acquisition in the studied Zambian population suggesting that they may play a role in HIV-1 MTCT.
RCT Entities:
Introduction: HumanBeta Defensin-1 (hBD-1) is a component of the innate immune system, the first line of defence against pathogens, already reported as involved in the susceptibility to HIV-1 infection and HIV-1 mother-to-child transmission (MTCT) in different populations. We investigated the role of DEFB1 gene (encoding for hBD-1) functional polymorphisms in the susceptibility to HIV-1 MTCT in a population from Zambia. Methods: Four selected polymorphisms within DEFB1 gene, three at the 5' untranslated region (UTR), namely -52G > A (rs1799946), -44C > G (rs1800972) and -20G > A (rs11362) and one in the 3'UTR, c.*87A > G (rs1800972), were genotyped in 101 HIV-1 positive mothers (26 transmitters -27% and 75 not transmitters -73%) and 331 infants born to HIV-1 infected mothers (85 HIV-1 positive -26% and 246 exposed but not infected -74%). Results:DEFB1 c.*87-A allele was more frequent among HIV- children with respect to HIV+ (with intrauterine MTCT). Concerning DEFB1 haplotypes, GCGA haplotype resulted more represented in HIV- than HIV+ infants and DEFB1 ACGG haplotype presented increased frequency in HIV- children respect to HIV+ (with intra-partum MTCT) (p = .02, p = .002 and p = .006, respectively). Conclusions: DEFB1 polymorphisms were significantly associated with decreased risk of HIV-1 infection acquisition in the studied Zambian population suggesting that they may play a role in HIV-1 MTCT.
Authors: P M Garcia; L A Kalish; J Pitt; H Minkoff; T C Quinn; S K Burchett; J Kornegay; B Jackson; J Moye; C Hanson; C Zorrilla; J F Lew Journal: N Engl J Med Date: 1999-08-05 Impact factor: 91.245
Authors: J A Estrada-Aguirre; I Osuna-Ramírez; E Prado Montes de Oca; L A Ochoa-Ramirez; M Ramirez; L G Magallon-Zazueta; M S Gonzalez-Beltran; S G Cazarez-Salazar; H Rangel-Villalobos; J S Velarde-Felix Journal: Curr HIV Res Date: 2014 Impact factor: 1.581