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Related Experiment Videos

Autoimmunity and tuberculosis. Opposite association with TNF polymorphism.

Paula A Correa1, Luis M Gomez, Jose Cadena

  • 1Cellular Biology and Immunogenetics Unit, Corporación para Investigaciones Biológicas (CIB), Medellín, Colombia.

The Journal of Rheumatology
|February 5, 2005
PubMed
Summary

Tumor necrosis factor-alpha (TNF) gene polymorphisms (-308 and -238 SNPs) show opposing associations with autoimmune diseases and tuberculosis (TB). These findings suggest a heterozygote advantage, linking autoimmunity to enhanced TB resistance and supporting shared genetic mechanisms in disease.

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Area of Science:

  • Immunogenetics
  • Human Genetics
  • Molecular Biology

Background:

  • Autoimmune diseases like rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and primary Sjogren's syndrome (SS) share common immunogenetic pathways.
  • Tumor necrosis factor-alpha (TNF) is a key cytokine involved in immune regulation and inflammation, making its gene polymorphisms potential candidates for disease association studies.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) at positions -308 and -238 in the TNF gene and the risk of developing RA, SLE, primary SS, and tuberculosis (TB).

Main Methods:

  • Genotyping of TNF -308 and -238 SNPs using PCR-RFLP in DNA samples from patients with RA, SLE, primary SS, TB, and healthy controls.
  • Statistical analysis to determine odds ratios (OR) and p-values for allele and genotype associations.

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Main Results:

  • The TNF -308A allele was significantly associated with increased risk for RA, SLE, and primary SS.
  • Conversely, the TNF -308G allele was associated with TB, and the -308 GG genotype showed a protective effect against autoimmunity.
  • The TNF -238A allele was protective for autoimmunity but a susceptibility factor for TB, with specific haplotypes showing differential associations with autoimmunity and TB.

Conclusions:

  • TNF gene polymorphisms exhibit opposing associations with autoimmune diseases and TB, suggesting a potential evolutionary trade-off.
  • The findings support the hypothesis of heterozygote advantage, where certain genotypes confer resistance to infectious diseases (TB) while increasing susceptibility to autoimmunity.
  • The study provides genetic evidence for the common variants/multiple disease hypothesis, indicating shared genetic underpinnings for diverse diseases, including autoimmune conditions.