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

Genetic Service, IRCCS Burlo Garofolo and Chair of Genetics, University of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy.
Genes and Immunity (Impact Factor: 3.68). 07/2000; 1(5):346-8. DOI: 10.1038/sj.gene.6363685
Source: PubMed

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.

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