Identification of rare coding variants in TYK2 protective for rheumatoid arthritis in the Japanese population and their effects on cytokine signalling.


Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan [Email]


Although genome-wide association studies (GWAS) have identified approximately 100 loci for rheumatoid arthritis (RA), the disease mechanisms are not completely understood. We evaluated the pathogenesis of RA by focusing on rare coding variants.


TYK2,cytokine signaling,rare variant,rheumatoid arthritis,target sequencing,