A nonsense mutation (428G-->A) in the fucosyltransferase FUT2 gene affects the progression of HIV-1 infection.

• Abstract: BACKGROUND: The human FUT2 gene encodes the alpha(1,2)fucosyltransferase that determines secretor status. Homozygous for the nonsense mutation are called non-secretors and are unable to express histo-blood group antigens in secretions and on mucosal surfaces. In this study we have investigated the importance of the FUT2 fucosyltransferase activity on the progress of HIV-1 infection. METHODS: Swedish blood donors (n = 276), 15 long-term non-progressors (LTNP) and 19 progressors were genotyped with respect to the nonsense mutation 428G-->A in the FUT2 gene. In addition 265/276 blood donors and 19 progressors with rapid or expected progression rate were Delta32 CCR5 genotyped. RESULTS: Of 276 blood donors 218 (79%) were found to be secretor positive (se+), either homozygous (se+/+) wild type (30%) or heterozygous (se+/-) (49%) and 58 (21%) were homozygous non-secretors (se-/-). Five LTNP (33%) were found to be secretor-positive (se+/+, se+/-) and 10 (67%) se-/-. Of the 19 individuals with normal HIV-1 progression 15 (79 %) were found to be secretor positive and four (21%) were non-secretors. No frequency differences were found in the Delta32 CCR5 allele among the groups studied. CONCLUSION: Strong association (P < 0.001) was observed between the nonsense mutation 428G-->A in the FUT2 gene and a slow disease progression of HIV-1 infection.
• Authors: Elin Kindberg, Bo Hejdeman, Göran Bratt, Britta Wahren, Bertil Lindblom, Jorma Hinkula, Lennart Svensson (Affiliation: Department of Forensic Genetics, National Board of Forensic Medicine, University Hospital, Linköping, Sweden.)
• Journal: AIDS (London, England) (AIDS) Vol. 20 Issue 5 Pg. 685-9 (Mar 21 2006) ISSN: 0269-9370 [Print] England
• PMID: 16514298 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Blood Group Antigens
• Codon, Nonsense
• Receptors, CCR5
• Fucosyltransferases
• galactoside 2-alpha-L-fucosyltransferase

Topics

• Adult
• Blood Group Antigens
• Codon, Nonsense
• Disease Progression
• Fucosyltransferases (genetics)
• Gene Frequency
• Genotype
• HIV Infections (enzymology, immunology)
• HIV-1
• Humans
• Male
• Polymerase Chain Reaction (methods)
• Receptors, CCR5 (genetics)
• Survivors