The first genome-wide association study (GWAS) of IgG4-related disease, involving 857 Japanese patients with IgG4-related disease and 2,082 healthy participants, has identified two susceptibility loci: HLA-DRB1 and FCGR2B. The strongest disease association in HLA-DRB1 corresponded to an amino acid residue in the peptide-binding groove of HLA-DRB1. The single nucleotide variant in FCGR2B (rs1340976) was associated with increased expression of FCGR2B, as well as with specific clinical features of IgG4-related disease (including the number of swollen organs and IgG4 concentration at diagnosis).
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Terao, C. et al. IgG4-related disease in the Japanese population: a genome-wide association study. Lancet Rheumatol. https://doi.org/10.1016/S2665-9913(19)30006-2 (2019)
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McHugh, J. Two GWAS loci identified in IgG4-related disease. Nat Rev Rheumatol 15, 574 (2019). https://doi.org/10.1038/s41584-019-0300-0
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DOI: https://doi.org/10.1038/s41584-019-0300-0