Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): Implications of its allelic distribution on susceptibility or resistance to diseases in the Chilean population

J. Cuenca, C. A. Pérez, A. J. Aguirre, I. Schiattino, J. C. Aguillón*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

39 Scopus citations

Abstract

Several single-nucleotide polymorphisms have been identified in the human TNF gene promoter. The polymorphism at position -308 (TNF-308), which involves substituting G for A and designing the TNF2 allele, leads to a higher rate of TNF gene transcription than the wild-type TNF1 allele in in vitro expression studies. It has also been linked to increased susceptibility to a variety of illness. Using PCR-RFLP analysis we detected significant differences in the TNF-308 genotypes of Chilean and other populations. We conclude that there is a gradient in the distribution of the TNF2 allele according to ethnicity; we have also hypothesized that populations bearing a higher proportion of the TNF2 allele may have an increased predisposition toward or incidence of several chronic metabolic, degenerative, inflammatory and autoimmune diseases.

Original languageEnglish
Pages (from-to)237-241
Number of pages5
JournalBiological Research
Volume34
Issue number3-4
DOIs
StatePublished - 2001
Externally publishedYes

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