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A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Comprehensive analysis of TNF-alpha gene polymorphism: a computational approach.
Kajal Gaba1, Samridhi Pushkarna1, Parveen Malhotra2
1Centre For Medical Biotechnology, Maharshi Dayanand University, Rohtak 124001, India.
Human Immunology
|June 4, 2026
Summary
Genetic variations in the Tumor Necrosis Factor-alpha (TNF-alpha) gene, specifically SNPs in coding and regulatory regions, can impact protein structure and gene expression, potentially influencing disease. Further research is needed to explore these variants.
Area of Science:
- Genetics
- Molecular Biology
- Immunology
Background:
- Tumor Necrosis Factor-alpha (TNF-alpha) is a key cytokine regulating inflammation and immune responses.
- Genetic variations, including single nucleotide polymorphisms (SNPs) in the TNF-alpha gene, are implicated in disease pathogenesis.
- Understanding SNPs in the untranslated regions (UTRs) and coding regions of TNF-alpha is crucial for elucidating disease mechanisms.
Purpose of the Study:
- To conduct a comprehensive in-silico analysis of the TNF-alpha gene.
- To identify deleterious single nucleotide polymorphisms (SNPs) within the UTRs and coding regions of TNF-alpha.
- To predict the functional impact of these SNPs on protein structure and gene regulation.
Main Methods:
- Retrieved TNF-alpha gene SNPs data from the dbSNP database.
- Utilized various in-silico tools to evaluate and predict the pathogenic effects of identified SNPs.
- Analyzed SNPs for their potential to affect protein structure and regulatory elements like transcription factor binding sites.
Main Results:
- Evaluated a total of 2262 SNPs in the TNF-alpha gene.
- Identified three coding SNPs consistently predicted as deleterious, affecting conserved residues and protein structure.
- Discovered 13 pathogenic SNPs in the UTRs with the potential to disrupt regulatory binding sites, impacting TNF-alpha expression.
Conclusions:
- Both coding and regulatory SNPs in the TNF-alpha gene possess significant functional implications for protein structure and gene regulation.
- A limited number of TNF-alpha SNPs have been extensively studied, while many others remain unexplored.
- Further research on the identified potentially pathogenic variants is essential to fully understand the role of the TNF-alpha gene in various diseases.
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