title: The -308 polymorphism in the promoter region of the tumor necrosis factor-alpha (TNF-alpha) gene and ex vivo lipopolysaccharide-induced TNF-alpha expression in patients with aggressive periodontitis and/or type 1 diabetes mellitus.
abstract: Several single-nucleotide polymorphisms (SNPs) have been identified in the TNF-alpha gene promoter. The transition G-->A at position -308 generates the TNF-alpha1 (G/G) and TNF-alpha2 (G/A or A/A) alleles, where the polymorphic TNF-alpha2 allele is associated with a high, in vitro TNF-alpha expression and an increased susceptibility to diverse illnesses. Here we study the association of the -308 TNF-alpha SNP with the susceptibility for developing aggressive periodontitis (AP), AP combined with type 1 diabetes mellitus (DM) and DM. We also explore the TNF-alpha capability expression and the presence of the -308 polymorphism. For this purpose we recruited 27 individuals with AP (AP+ group), 27 individuals with AP combined with DM (AP+/DM+ group), and 27 individuals with DM without signs of periodontitis upon clinical examination (DM+ group). The control group was comprised of 30 subjects. Genotyping for TNF-alpha promoter was performed by PCR-RFLP analysis. For TNF-alpha expression we used a blood culture system.
authors.affiliation: Disciplinary Program of Immunology, Institute of Biomedical Sciences, Faculty of Medicine, University of Chile, Independencia 1027, Santiago, Chile.
authors.forename: Claudio
authors.initials: C
authors.lastname: Pérez
authors.forename: Fermín E
authors.initials: FE
authors.lastname: González
authors.forename: Violeta
authors.initials: V
authors.lastname: Pavez
authors.forename: Aida V
authors.initials: AV
authors.lastname: Araya
authors.forename: Adam
authors.initials: A
authors.lastname: Aguirre
authors.forename: Andrea
authors.initials: A
authors.lastname: Cruzat
authors.forename: Juan
authors.initials: J
authors.lastname: Contreras-Levicoy
authors.forename: Andrés
authors.initials: A
authors.lastname: Dotte
authors.forename: Octavio
authors.initials: O
authors.lastname: Aravena
authors.forename: Lorena
authors.initials: L
authors.lastname: Salazar
authors.forename: Diego
authors.initials: D
authors.lastname: Catalán
authors.forename: Jimena
authors.initials: J
authors.lastname: Cuenca
authors.forename: Arturo
authors.initials: A
authors.lastname: Ferreira
authors.forename: Irene
authors.initials: I
authors.lastname: Schiattino
authors.forename: Juan C
authors.initials: JC
authors.lastname: Aguillón
mesh_terms: D000328:Adult; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000378:metabolism*; D008070:Lipopolysaccharides / Q000494:pharmacology; D008297:Male; D010518:Periodontitis / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide / Q000235:genetics* / Q000502:physiology; D011401:Promoter Regions, Genetic / Q000235:genetics* / Q000502:physiology; D014409:Tumor Necrosis Factor-alpha / Q000096:biosynthesis / Q000235:genetics*
chemical_list: D008070:Lipopolysaccharides; D014409:Tumor Necrosis Factor-alpha