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NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis ...
Manuel Sánchez-Maldonado, Jose; Martínez-Bueno, Manuel; Canhao, Helena; ter Horst, Rob; Muñoz-Peña, Sonia; Moñiz-Díez, Ana; Rodríguez-Ramos, AnaThis study sought to evaluate the association of 28 single nucleotide polymorphisms (SNPs) within NFKB and inflammasome pathway genes with the risk of rheumatoid arthritis (RA) and response to TNF inhibitors (TNFi). We conducted a case-control study in a European population of 1194 RA patients and 1328 healthy controls. The association of potentially interesting markers was validated with data from the DANBIO (...
Polymorphisms at phase I-metabolizing enzyme and hormone receptor loci influenc...
Canet, Luz M.; Sánchez-Maldonado, Jose M.; Cáliz, Rafael; Rodríguez-Ramos, Ana; Lupiañez, Carmen B.; Canhao, Helena; Martínez-Bueno, ManuelThe aim of this case-control study was to evaluate whether 47 single-nucleotide polymorphisms (SNPs) in steroid hormone-related genes are associated with the risk of RA and anti-TNF drug response. We conducted a case-control study in 3 European populations including 2936 RA patients and 2197 healthy controls. Of those, a total of 1985 RA patients were treated with anti-TNF blockers. The association of potential...
Tyk2 protein-coding variants protect against rheumatoid arthritis and autoimmun...
Diogo, Dorothée; Bastarache, Lisa; Liao, Katherine P.; Graham, Robert R.; Fulton, Robert S.; Greenberg, Jeffrey D.; Eyre, Steve; Bowes, John; Cui, JingDespite the success of genome-wide association studies (GWAS) in detecting a large number of loci for complex phenotypes such as rheumatoid arthritis (RA) susceptibility, the lack of information on the causal genes leaves important challenges to interpret GWAS results in the context of the disease biology. Here, we genetically fine-map the RA risk locus at 19p13 to define causal variants, and explore the pleiot...