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Published on: March 12, 2015
Interferon-gamma gene (T874A and G2109A) polymorphisms are associated with microscopy-positive tuberculosis
G E Etokebe1, L Bulat-Kardum, M S Johansen
1Immunology Laboratory, Department of Oral Biology, University of Oslo, Oslo, Norway.
Scandinavian Journal of Immunology
|February 16, 2006
Summary
Genetic variations in the interferon-gamma (IFN-gamma) gene were not linked to tuberculosis susceptibility in Croatia. However, specific genotypes were associated with disease severity, not initial predisposition.
Area of Science:
- Immunogenetics
- Tuberculosis Research
- Human Genetics
Background:
- Genetic factors influence tuberculosis susceptibility, with several loci contributing minor effects.
- Polymorphisms in the interferon-gamma (IFN-gamma) gene, specifically IFNG T+874A and IFNG G+2109A, are linked to in vitro IFN-gamma production.
- Previous studies suggested a lower frequency of high IFN-gamma producers in Sicilian tuberculosis patients compared to controls.
Purpose of the Study:
- To investigate the association between polymorphisms in the IFN-gamma gene and tuberculosis predisposition.
- To determine if IFNG T+874A and G+2109A single nucleotide polymorphisms (SNPs) are linked to tuberculosis susceptibility in a Croatian population.
Main Methods:
- Analysis of two IFNG SNPs (T+874A and G+2109A) in Croatian tuberculosis patients (n=253) and controls (n=519).
- Genotype and haplotype analyses were performed using predicted haplotypes.
- Comparison of genotype frequencies between disease groups and controls, and between positive and negative disease forms.
Main Results:
- No association was found between IFNG alleles, genotypes, or haplotypes and tuberculosis susceptibility in the Croatian cohort.
- The T/T+874 genotype (putative high IFN-gamma producer) and +874A/A genotype (putative low producer) showed an association with microscopically positive versus negative disease forms.
- Genotypes lacking the T allele at +874 were more frequent in microscopy- or culture-positive patients compared to negative counterparts, suggesting a link to disease severity.
Conclusions:
- IFN-gamma gene polymorphisms are not associated with susceptibility to tuberculosis in the studied Croatian Caucasian population.
- Specific IFNG genotypes may be associated with tuberculosis disease severity rather than susceptibility.
- Findings contrast with previous studies in Sicilian populations, highlighting potential ethnic or environmental differences.
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