Polymorphisms in the MBL2 promoter correlated with risk of HIV-1 vertical transmission and AIDS progression

M. Boniotto, S. Crovella, D. Pirulli, G. Scarlatti, A. Spanò, L. Vatta, S. Zezlina, P. A. Tovo, E. Palomba, A. Amoroso

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)346-348
Number of pages3
JournalGenes and Immunity
Issue number5
Publication statusPublished - Jun 2000


  • AIDS progression
  • HIV-1 infection
  • Mannose-binding protein
  • MBL2
  • Promoter region

ASJC Scopus subject areas

  • Genetics
  • Immunology
  • Genetics(clinical)


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