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 Diéguez González, Rebeca
A1 Calaza Cabanas, Manuel
A1 Pérez Pampín, Eva
A1 Balsa, Alejandro
A1 Blanco, Francisco J.
A1 Cañete, Juan D.
A1 Cáliz, Rafael
A1 Carreño, Luis
A1 Serna, Arturo R. de la
A1 Fernández Gutiérrez, Benjamín
A1 Ortiz, Ana María
A1 Herrero Beaumont, Gabriel
A1 Pablos, Jose L.
A1 Narváez, Javier
A1 Navarro, Federico
A1 Marenco, Jose L.
A1 Gómez-Reino Carnota, Juan Jesús
A1 González Martínez-Pedrayo, Antonio
K1 Rheumatoid Arthritis
K1 Systemic Lupus Erythematosus
K1 Intergenic Region
K1 Additional Data File
K1 Control Individual
AB Introduction Genome-wide association studies of rheumatoidarthritis (RA) have identified an association of the disease with a6q23 region devoid of genes. TNFAIP3, an RA candidate gene,flanks this region, and polymorphisms in both the TNFAIP3gene and the intergenic region are associated with systemiclupus erythematosus. We hypothesized that there is a similarassociation with RA, including polymorphisms in TNFAIP3 andthe intergenic region.Methods To test this hypothesis, we selected tag-singlenucleotide polymorphisms (SNPs) in both loci. They wereanalyzed in 1,651 patients with RA and 1,619 control individualsof Spanish ancestry.Results Weak evidence of association was found both in the6q23 intergenic region and in the TNFAIP3 locus. Thers582757 SNP and a common haplotype in the TNFAIP3 locusexhibited association with RA. In the intergenic region, twoSNPs were associated, namely rs609438 and rs13207033.The latter was only associated in patients with anti-citrullinatedpeptide antibodies. Overall, statistical association was bestexplained by the interdependent contribution of SNPs from thetwo loci TNFAIP3 and the 6q23 intergenic region.Conclusions Our data are consistent with the hypothesis thatseveral RA genetic factors exist in the 6q23 region, includingpolymorphisms in the TNFAIP3 gene, like that previouslydescribed for systemic lupus erythematosus
PB BMC
SN 1478-6354
YR 2009
FD 2009
LK http://hdl.handle.net/10347/23078
UL http://hdl.handle.net/10347/23078
LA eng
NO Dieguez-Gonzalez, R., Calaza, M., Perez-Pampin, E. et al. Analysis of TNFAIP3, a feedback inhibitor of nuclear factor-κB and the neighbor intergenic 6q23 region in rheumatoid arthritis susceptibility. Arthritis Res Ther 11, R42 (2009). https://doi.org/10.1186/ar2650
NO This project was supported by grants PI04/1513 and PI06/620 form the Instituto de Salud Carlos III (Spain) with participation of funds from FEDER (European Union)
DS Minerva
RD 4 may 2026