title: Ankylosing spondylitis susceptibility and severity--contribution of TNF gene promoter polymorphisms at positions -238 and -308.
abstract: Ankylosing spondylitis (AS) is a chronic inflammatory disease in which genetic factors play a central role. The efficacy of TNF blockers has reoriented research in this field in order to explain the influence of TNF in AS pathogenesis. The objective of this study was to access the influence of single nucleotide polymorphisms (SNPs) at positions -308 and -238 of the promoter region of TNF gene on AS susceptibility and prognosis. SNPs were determined by restriction fragment length polymorphisms in patients and controls. AS patients exhibited a decreased frequency of the A allele at position -238 (10%) when compared with controls (18%), suggesting that this could be a protective factor for disease susceptibility. In addition, the -308 GA/AA genotypes were associated with later disease onset in AS patients. These results suggest that TNF gene promoter polymorphisms at positions -238 and -308 could have a small influence on AS susceptibility and prognosis.
authors.affiliation: Rheumatology Research Unit, Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.
authors.forename: Elsa
authors.initials: E
authors.lastname: Sousa
authors.forename: Joana
authors.initials: J
authors.lastname: Caetano-Lopes
authors.forename: Patrícia
authors.initials: P
authors.lastname: Pinto
authors.forename: Fernando
authors.initials: F
authors.lastname: Pimentel
authors.forename: José
authors.initials: J
authors.lastname: Teles
authors.forename: Helena
authors.initials: H
authors.lastname: Canhão
authors.forename: Ana
authors.initials: A
authors.lastname: Rodrigues
authors.forename: Catarina
authors.initials: C
authors.lastname: Resende
authors.forename: Ana Filipa
authors.initials: AF
authors.lastname: Mourão
authors.forename: Célia
authors.initials: C
authors.lastname: Ribeiro
authors.forename: Teresa Laura
authors.initials: TL
authors.lastname: Pinto
authors.forename: Carlos Miranda
authors.initials: CM
authors.lastname: Rosa
authors.forename: José Alberto Pereira
authors.initials: JA
authors.lastname: da Silva
authors.forename: Jaime
authors.initials: J
authors.lastname: Branco
authors.forename: Francisco
authors.initials: F
authors.lastname: Ventura
authors.forename: Mário Viana
authors.initials: MV
authors.lastname: Queiroz
authors.forename: João Eurico
authors.initials: JE
authors.lastname: Fonseca
mesh_terms: D000328:Adult; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012720:Severity of Illness Index; D013167:Spondylitis, Ankylosing / Q000097:blood / Q000235:genetics* / Q000473:pathology; D014409:Tumor Necrosis Factor-alpha / Q000097:blood / Q000235:genetics*
chemical_list: D014409:Tumor Necrosis Factor-alpha