1. Figure 2 Overlap of associated loci among five rheumatic diseases
Figure 2 | Overlap of associated loci among five rheumatic diseases. Shared genetic susceptibility loci between rheumatic diseases suggest that these diseases also share biological disease mechanisms and treatment options. This figure illustrates the number of overlapping loci observed between the major rheumatic diseases (for the unnumbered areas the overlap is zero) and highlights some relevant disease-associated genes. Rheumatic diseases with substantial available GWAS, validation and fine-mapping data are included. Key disease-associated genes include PADI4 in rheumatoid arthritis (RA), involved in the citrullination of proteins; anti-citrullinated protein antibodies (ACPA) are a key distinctive component of this disease. CTLA4 and IL6R are targets of the biologic therapies abatacept and tocilizumab, respectively, effective therapies for RA. The association of ITGAM variants with systemic lupus erythematosus (SLE) reinforce the importance of the complement system in this rheumatic disease, whereas the association of LCE3A variants with psoriatic arthritis (PsA) shows the organ-specific and disease-specific nature of some of these genetic associations (in this case, the skin). AS, ankylosing spondylitis; JIA, juvenile idiopathic arthritis.
Eyre, S. et al. (2017) The genetics revolution in rheumatology: large scale genomic arrays and genetic mapping
Nat. Rev. Rheumatol. doi: /nrrheum