Detection of susceptibility genes associated with autoimmune rheumatic diseases in the Japanese population and its translation into genome medicine.

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This study aimed at finding polymorphisms associated with susceptibility to autoimmune rheumatic diseases, as well as with clinical characteristics and adverse reaction to drugs, in the Japanese population. Association of TLR7 with systemic lupus erythematosus (SLE) and SPP1 with rheumatoid arthritis (RA) was identified through international multicenter collaboration. Association of IRF2, PHRF1-IRF7 with SLE, UBE2L3 with systemic sclerosis, and IRF5 with myeloperoxidase-antineutrophil cytoplasmic antibody-associated vasculitis was detected through collaboration with national rheumatology centers. In addition, HLA-DRB1*13:02 and DRB1*14:03 were found to be protective against SLE. With respect to adverse reactions to drugs, HLA-A*31:01 was found to be associated with methotrexate associated interstitial lung disease in RA. These results will provide valuable information for the establishment of genome medicine for autoimmune rheumatic diseases in Japan.