RT Journal Article
T1 Analysis of TNFAIP3, a feedback inhibitor of nuclear factor-κB and the neighbor intergenic 6q23 region in rheumatoid arthritis susceptibility
A1 Dieguez-Gonzalez, Rebeca
A1 Calaza, Manuel
A1 Perez-Pampin, Eva
A1 Balsa, Alejandro
A1 Blanco, Francisco J
A1 Cañete, Juan D
A1 Cáliz, Rafael
A1 Carreño, Luís
A1 Serna, Arturo R de la
A1 Fernandez-Gutierrez, Benjamín
A1 Ortiz, Ana Maria
A1 Herrero-Beaumont, Gabriel
A1 Pablos, Jose L
A1 Narvaez, Javier
A1 Navarro, Federico
A1 Marenco, Jose L
A1 Gomez-Reino, Juan J
A1 Gonzalez, Antonio
K1 Intracellular Signaling Peptides and Proteins
K1 NF-kappa B
K1 Nuclear Proteins
K1 TNFAIP3 protein, human
K1 Humanos
K1 Péptidos y Proteínas de Señalización Intracelular
K1 Realizador del VIH
K1 Proteínas Nucleares
K1 Reacción en Cadena de la Polimerasa
K1 Polimorfismo de Nucleótido Simple
K1 DNA, Intergenic
K1 Cromosomas Humanos Par 6
K1 ADN Intergénico
K1 Predisposición Genética a la Enfermedad
K1 Estudio de Asociación del Genoma Completo
K1 Péptidos y Proteínas de Señalización Intracelular
K1 Artritis Reumatoide
AB INTRODUCTIONGenome-wide association studies of rheumatoid arthritis (RA) have identified an association of the disease with a 6q23 region devoid of genes. TNFAIP3, an RA candidate gene, flanks this region, and polymorphisms in both the TNFAIP3 gene and the intergenic region are associated with systemic lupus erythematosus. We hypothesized that there is a similar association with RA, including polymorphisms in TNFAIP3 and the intergenic region.METHODSTo test this hypothesis, we selected tag-single nucleotide polymorphisms (SNPs) in both loci. They were analyzed in 1,651 patients with RA and 1,619 control individuals of Spanish ancestry.RESULTSWeak evidence of association was found both in the 6q23 intergenic region and in the TNFAIP3 locus. The rs582757 SNP and a common haplotype in the TNFAIP3 locus exhibited association with RA. In the intergenic region, two SNPs were associated, namely rs609438 and rs13207033. The latter was only associated in patients with anti-citrullinated peptide antibodies. Overall, statistical association was best explained by the interdependent contribution of SNPs from the two loci TNFAIP3 and the 6q23 intergenic region.CONCLUSIONSOur data are consistent with the hypothesis that several RA genetic factors exist in the 6q23 region, including polymorphisms in the TNFAIP3 gene, like that previously described for systemic lupus erythematosus.
PB BioMed Central
SN 1478-6354
YR 2009
FD 2009-03-17
LK http://hdl.handle.net/10668/601
UL http://hdl.handle.net/10668/601
LA en
NO Dieguez-Gonzalez R, Calaza M, Perez-Pampin E, Balsa A, Blanco FJ, Cañete JD, et al. Analysis of TNFAIP3, a feedback inhibitor of nuclear factor-kappaB and the neighbor intergenic 6q23 region in rheumatoid arthritis susceptibility.  Arthritis Res Ther. 2009;11(2):R42
NO Journal Article; Research Support, Non-U.S. Gov't;
DS RISalud
RD Apr 12, 2025