1999
DOI: 10.1046/j.1365-2370.1999.00122.x
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In vitroproduction of IFN-γ correlates with CA repeat polymorphism in the human IFN-γ gene

Abstract: The DNA sequence of the human IFN-gamma gene shows the presence of a variable-length CA repeat in the first intron of the gene. We investigated the allele distribution of this microsatellite region in 164 unrelated healthy individuals, and the association with interferon-gamma (IFN-gamma) production. In vitro production of IFN-gamma showed a significant correlation with the presence of allele #2.

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Cited by 424 publications
(326 citation statements)
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“…Two a chains and a b chain (from a gene on chromosome 21) are required for functional activity of the receptor, eg induction by IFNg of class II antigens and activation of macrophage bactericidal and tumoricidal effects. Among the IFNg polymorphisms, Pravica et al 25 have shown that the level of INFg expressed from PBMC stimulated with mitogens varies with microsatellite allele genotype, homozygous (2/2) subject being the highest producers.…”
Section: Discussionmentioning
confidence: 99%
“…Two a chains and a b chain (from a gene on chromosome 21) are required for functional activity of the receptor, eg induction by IFNg of class II antigens and activation of macrophage bactericidal and tumoricidal effects. Among the IFNg polymorphisms, Pravica et al 25 have shown that the level of INFg expressed from PBMC stimulated with mitogens varies with microsatellite allele genotype, homozygous (2/2) subject being the highest producers.…”
Section: Discussionmentioning
confidence: 99%
“…Several regulatory genetic elements associated with differences in secretion have recently been identified in the genes coding for a number of different cytokines. [1][2][3][4][5][6] These regulatory polymorphisms are therefore thought to be at least partially responsible for interindividual differences in their ability to cope with a given challenge to the immune system. Different cytokine genotypes directly reflect high-and low-responsive cytokine promoters.…”
Section: Introductionmentioning
confidence: 99%
“…1,2 Several studies have reported associations between IFNG polymorphisms and susceptibility to disease. The first intron of the IFNG gene contains a highly polymorphic CA-repeat microsatellite, whose 12 CA-repeat allele is associated with high levels of IFNg production in vitro 3 and has been associated with resistance or susceptibility to various diseases including rheumatoid arthritis, 4 allograft fibrosis in lung transplant recipients, 5 acute graft-versus-host disease 6 and asthma. 7 This microsatellite allele has been associated with a singlenucleotide polymorphism (SNP) allele IFNG þ 874T, which coincides with a putative NF-kB binding site, 8 and has been associated with resistance to tuberculosis.…”
Section: Introductionmentioning
confidence: 99%