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Ankylosing Spondylitis Susceptibility and Severity—Contribution of TNF Gene Promoter Polymorphisms at Positions –238 and –308
Author(s) -
Sousa Elsa,
CaetanoLopes Joana,
Pinto Patrícia,
Pimentel Fernando,
Teles José,
Canhão Helena,
Rodrigues Ana,
Resende Catarina,
Mourão Ana Filipa,
Ribeiro Célia,
Pinto Teresa Laura,
Rosa Carlos Miranda,
Da Silva José Alberto Pereira,
Branco Jaime,
Ventura Francisco,
Queiroz Mário Viana,
Fonseca João Eurico
Publication year - 2009
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.2009.04758.x
Subject(s) - ankylosing spondylitis , single nucleotide polymorphism , allele , tumor necrosis factor alpha , genotype , restriction fragment length polymorphism , gene , promoter , allele frequency , genetics , pathogenesis , spondylitis , biology , genetic predisposition , immunology , gene expression
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.