title: MBL2 genetic polymorphisms and HIV-1 mother-to-child transmission in Zambia.
abstract: Since antiretroviral drugs have been introduced to prevent mother-to-child transmission, the risk of HIV-1 infection in infants has decreased considerably worldwide. Nevertheless, many factors are involved in viral transmission and host susceptibility to infection. The immune system and its components, including mannose binding protein C (encoding by MBL2 gene), are already known to play an important role in this scenario. In the present study, 313 children and 98 of their mothers from Zambia were genotyped for the MBL2 promoter HL (rs11003125) and XY (rs7096206) polymorphisms and exon 1 D (rs5030737, at codon 52) B (rs1800450, at codon 54) and C (rs1800451, at codon 57) polymorphisms in order to investigate the potential role of these genetic variants in HIV-1 mother-to-child transmission. No statistical significant association was observed comparing transmitter and non-transmitter mothers and also confronting HIV-positive and HIV-negative children. The findings of the current study obtained on mother and children from Zambia evidence lack of association between MBL2 functional polymorphisms and HIV-1 mother-to-child transmission.
authors.affiliation: Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy. luisa.zupin@burlo.trieste.it.|Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy. luisa.zupin@burlo.trieste.it.
authors.forename: Luisa
authors.initials: L
authors.lastname: Zupin
authors.affiliation: Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
authors.forename: Vania
authors.initials: V
authors.lastname: Polesello
authors.affiliation: Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
authors.forename: Ludovica
authors.initials: L
authors.lastname: Segat
authors.affiliation: Gertrude H. Sergievsky Center and Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA.
authors.forename: Louise
authors.initials: L
authors.lastname: Kuhn
authors.affiliation: Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.|Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D015658:HIV Infections / Q000235:genetics*; D015497:HIV-1 / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D018445:Infectious Disease Transmission, Vertical; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D055815:Young Adult; D015024:Zambia
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin
keywords: HIV-1; Innate immunity; MBL2; Mother-to-child transmission