Proinflammatory cytokine gene polymorphisms in Behçet's disease
Aliakbar Amirzargar1, Farhad Shahram, Enayat Nikoopour
1Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
European Cytokine Network
|November 10, 2010
Summary
Genetic variations in tumor necrosis factor alpha (TNF-α) and interleukin-6 (IL-6) genes are linked to Behçet's disease (BD). Specific TNF-α genotypes and haplotypes were more common in BD patients, suggesting a genetic predisposition.
Area of Science:
- Immunogenetics
- Rheumatology
- Molecular Medicine
Background:
- Behçet's disease (BD) is a chronic systemic inflammatory disorder.
- BD is characterized by oral/genital ulcers and ocular inflammation.
- Altered levels of proinflammatory cytokines like IL-6 and TNF-α are implicated in BD pathogenesis.
Purpose of the Study:
- To investigate the association between proinflammatory cytokine gene polymorphisms and BD.
- To determine if specific genotypes/haplotypes of TNF-α and IL-6 are risk factors for BD.
Main Methods:
- Case-control study involving 150 BD patients and 140 healthy controls.
- Genotyping of TNF-α (-238, -308) and IL-6 (-174) gene polymorphisms.
- Haplotype analysis for TNF-α and IL-6 gene variants.
Main Results:
- Significantly higher frequency of TNF-α (-238) G/G genotype and GG haplotype in BD patients.
- Significantly lower frequency of TNF-α (-238) G/A genotype and GA haplotype in BD patients.
- Significantly decreased frequencies of IL-6 (-174) C/G genotype and CG haplotype in BD patients.
Conclusions:
- Specific TNF-α gene polymorphisms (G/G genotype, GG haplotype) are over-represented in BD patients.
- Certain IL-6 gene variants (C/G genotype, CG haplotype) are less frequent in BD patients.
- These cytokine gene polymorphisms may contribute to the genetic predisposition and pathogenesis of Behçet's disease.
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