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EULAR study group on MHC-I-opathy: identifying disease-overarching mechanisms a...

Kuiper, Jonas J. W.; Prinz, Jörg C.; Stratikos, Efstratios; Kuśnierczyk, Piotr; Arakawa, Akiko; Springer, Sebastian; Mintoff, Dillon; Padjen, Ivan

The 'MHC-I (major histocompatibility complex class I)-opathy' concept describes a family of inflammatory conditions with overlapping clinical manifestations and a strong genetic link to the MHC-I antigen presentation pathway. Classical MHC-I-opathies such as spondyloarthritis, Behçet's disease, psoriasis and birdshot uveitis are widely recognised for their strong association with certain MHC-I alleles and gene ...


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, Jing

Despite 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...


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