Tumor necrosis factor alpha genetic polymorphism as a risk factor in disease

Juan C. Aguillón G, Andrea Cruzat C, Jimena Cuenca M, Miguel Cuchacovich T

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20 Scopus citations


Cytokine unbalance is responsible for the pathogenesis of diverse inflammatory, autoimmune and infectious diseases, and Tumor Necrosis Factor Alpha (TNFα), among other cytokines, plays a central role. TNFα production can be regulated at the transcriptional, post-transcriptional, and translational levels. Variability in the promoter and coding regions of the TNFα gene may modulate the magnitude of its secretory response. Up to date, several single nucleotide polymorphisms (SNPs) have been identified in the human TNFα gene promoter. One of these, is a guanine to adenine transition at position-308, that generates the TNF1 and TNF2 alleles, respectively. We TNF2 allele is associated to a high in vitro TNF expression, and it has also been linked to an increased susceptibility and severity, for a variety of illnesses, such as rheumatoid arthritis, systemic lupus erythematosus, inflammatory bowel disease, Alzheimer disease and cerebral malaria among others. It is also associated with a higher septic shock susceptibility and mortality. The investigation of polymorphisms within the TNFα cluster will be important in understanding the role of TNFα regulation in specific diseases.
Original languageAmerican English
Pages (from-to)1043-1050
Number of pages8
JournalRevista Medica de Chile
Issue number9
StatePublished - 1 Sep 2002


  • Cytokines
  • Polymorphism (Genetics)
  • Tumor necrosis factor


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