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Biological Research

Print version ISSN 0716-9760


CUENCA, JIMENA et al. 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. Biol. Res. [online]. 2001, vol.34, n.3-4, pp.237-241. ISSN 0716-9760.

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 illnesses. 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.

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