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Clinical spectrum time course in non-Asian patients positive for anti-MDA5 anti...

Cavagna, Lorenzo; Meloni, Federica; Meyer, Alain; Sambataro, Gianluca; Belliato, Mirko; De Langhe, Ellen; Cavazzana, Ilaria; Pipitone, Nicolò

Objectives: To define the clinical spectrum time-course and prognosis of non-Asian patients positive for anti-MDA5 antibodies. Methods: We conducted a multicentre, international, retrospective cohort study. Results: 149 anti-MDA5 positive patients (median onset age 53 years, median disease duration 18 months), mainly females (100, 67%), were included. Dermatomyositis (64, 43%) and amyopathic dermatomyositis (47...


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, Ana

This 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, Manuel

The 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...


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