A Nonsense Mutation (428G-->A) in the Fucosyltransferase FUT2 Gene Affects the Progression of HIV-1 Infection

AIDS. 2006 Mar 21;20(5):685-9. doi: 10.1097/01.aids.0000216368.23325.bc.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

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