title: 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.
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 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.
authors.affiliation: Disciplinary Immunology Program, ICBM, Faculty of Medicine, University of Chile, Independencia 1027, Santiago, Casilla 13898.
authors.forename: J
authors.initials: J
authors.lastname: Cuenca
authors.forename: C A
authors.initials: CA
authors.lastname: Pérez
authors.forename: A J
authors.initials: AJ
authors.lastname: Aguirre
authors.forename: I
authors.initials: I
authors.lastname: Schiattino
authors.forename: J C
authors.initials: JC
authors.lastname: Aguillón
mesh_terms: D000483:Alleles; D002677:Chile; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D014409:Tumor Necrosis Factor-alpha