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[Tumor necrosis factor alpha genetic polymorphism as a risk factor in disease]
Juan C Aguillón1, Andrea Cruzat, Jimena Cuenca
1Programa Disciplinario de Inmunología, Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Sección de Reumatología, Departamento de Medicina, Hospital Clínico. jaguillo@machi.med.uchile.cl
Revista Medica De Chile
|November 19, 2002
Summary
Tumor Necrosis Factor Alpha (TNF alpha) gene variations, like the TNF2 allele, are linked to increased disease susceptibility and severity. Understanding these genetic factors is crucial for managing inflammatory and autoimmune conditions.
Area of Science:
- Immunology and Genetics
- Molecular Biology
Context:
- Cytokine dysregulation, particularly Tumor Necrosis Factor Alpha (TNF alpha), is implicated in inflammatory, autoimmune, and infectious diseases.
- TNF alpha production is tightly regulated at multiple molecular levels, including transcriptional, post-transcriptional, and translational control.
Purpose:
- To investigate the role of single nucleotide polymorphisms (SNPs) in the human TNF alpha gene promoter.
- To examine the association between specific TNF alpha gene variants and disease susceptibility and severity.
Summary:
- Single nucleotide polymorphisms (SNPs) in the TNF alpha gene promoter, such as the guanine to adenine transition at position -308 creating TNF1 and TNF2 alleles, influence TNF alpha expression.
- The TNF2 allele is associated with heightened in vitro TNF alpha expression and increased susceptibility and severity in various diseases, including rheumatoid arthritis, lupus, IBD, Alzheimer's, and cerebral malaria.
- This allele is also linked to greater susceptibility and mortality in septic shock.
Impact:
- Investigating polymorphisms within the TNF alpha gene cluster is vital for elucidating the role of TNF alpha regulation in specific disease pathogenesis.
- Findings can inform personalized medicine approaches for diseases associated with TNF alpha dysregulation.
- This research highlights the importance of genetic variability in immune response and disease outcomes.