title: Polymorphisms in the MBL2 promoter correlated with risk of HIV-1 vertical transmission and AIDS progression.
abstract: We investigated the polymorphisms of the promoter region of the MBL2 gene, which codifies for the Mannose-binding protein (MBP). The study population included 90 children with vertically acquired HIV-infection, further divided on the basis of the disease rate, 27 HIV exposed-uninfected children, and 74 healthy control subjects matched for ethnic origin to evaluate the MBP involvement in the risk of HIV-1 infection and to assess the role of the MBP promoter in AIDS progression. A region of 380 bp in the promoter of the MBL2 gene was analysed by PCR and direct sequencing of both DNA strands. We found that the polymorphism at position -550 influences the risk of HIV-infection and AIDS progression. Also a 6 bp deletion at position -328 was correlated with HIV-1 infection. This study indicates that the promoter of the MBL2 gene influences vertical transmission of HIV and the course of perinatal infection.
authors.affiliation: Genetic Service, IRCCS Burlo Garofolo and Chair of Genetics, University of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Boniotto
authors.forename: S
authors.initials: S
authors.lastname: Crovella
authors.forename: D
authors.initials: D
authors.lastname: Pirulli
authors.forename: G
authors.initials: G
authors.lastname: Scarlatti
authors.forename: A
authors.initials: A
authors.lastname: Spanò
authors.forename: L
authors.initials: L
authors.lastname: Vatta
authors.forename: S
authors.initials: S
authors.lastname: Zezlina
authors.forename: P A
authors.initials: PA
authors.lastname: Tovo
authors.forename: E
authors.initials: E
authors.lastname: Palomba
authors.forename: A
authors.initials: A
authors.lastname: Amoroso
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000209:etiology / Q000235:genetics; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D017931:DNA Primers / Q000235:genetics; D005260:Female; D015658:HIV Infections / Q000150:complications / Q000235:genetics* / Q000635:transmission*; D015497:HIV-1; D006801:Humans; D007231:Infant, Newborn; D018445:Infectious Disease Transmission, Vertical; D037601:Mannose-Binding Lectin / Q000031:analogs & derivatives*; D037241:Mannose-Binding Lectins; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious; D011401:Promoter Regions, Genetic; D012307:Risk Factors
chemical_list: D002352:Carrier Proteins; D017931:DNA Primers; C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin; D037241:Mannose-Binding Lectins