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Tumour necrosis factor gene polymorphism and disease prevalence
1Metabolic and Structural Biology Department, Central Institute of Medicinal and Aromatic Plants, Council of Scientific and Industrial Research, Lucknow, Uttar Pradesh, India.
Scandinavian Journal of Immunology
|July 28, 2011
Summary
Tumour necrosis factor (TNF) gene variations in regulatory regions can alter TNF levels, impacting disease susceptibility. Specific polymorphisms, like rs1800629 and rs361525, are key factors in this association.
Area of Science:
- Immunology and Genetics
- Molecular Biology
Background:
- Tumour necrosis factor (TNF) is a key proinflammatory cytokine involved in cellular processes and immune responses.
- Dysregulation of TNF is implicated in numerous human diseases, including infectious, cancer, autoimmune, and neurodegenerative conditions.
Purpose of the Study:
- To review the role of TNF gene polymorphisms in human disease susceptibility.
- To computationally identify single nucleotide polymorphisms (SNPs) within transcription factor-binding sites (TFBS) in the TNF regulatory region.
Main Methods:
- Comprehensive analysis of published case-control studies on TNF gene polymorphism and disease.
- Computational prediction of SNPs located in TFBS of transcription factors (TFs) within the TNF upstream region.
Main Results:
- TNF enhancer polymorphisms are linked to several diseases.
- TNF rs1800629 and rs361525 SNPs are significantly associated with human disease susceptibility due to their potential impact on TNF gene transcription.
- Thirty-two SNPs within TFBS of 20 TFs were identified in the TNF upstream region.
Conclusions:
- TNF gene variations, particularly enhancer polymorphisms, influence serum TNF levels and consequently affect susceptibility to various human diseases.
- These DNA sequence variations modify transcriptional regulation, leading to associations with disease susceptibility or resistance.
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