Emerging patterns of genetic overlap across autoimmune disorders

Abstract

Most of the recently identified autoimmunity loci are shared among multiple autoimmune diseases. The pattern of genetic association with autoimmune phenotypes varies, suggesting that certain subgroups of autoimmune diseases are likely to share etiological similarities and underlying mechanisms of disease. In this review, we summarize the major findings from recent studies that have sought to refine genotype-phenotype associations in autoimmune disease by identifying both shared and distinct autoimmunity loci. More specifically, we focus on information from recent genome-wide association studies of rheumatoid arthritis, ankylosing spondylitis, celiac disease, multiple sclerosis, systemic lupus erythematosus, type 1 diabetes and inflammatory bowel disease. Additional work in this area is warranted given both the opportunity it provides to elucidate pathogenic mechanisms in autoimmunity and its potential to inform the development of improved diagnostic and therapeutic tools for this group on complex human disorders.

Figure 1

Overlap of associated loci among autoimmune diseases highlighted in this review. Loci depicted in red are those shared by more than two autoimmune diseases. Loci depicted in black are those shared only by two autoimmune diseases. CD, Crohn's disease; CeD, celiac disease; JIA, juvenile idiopathic arthritis; MS, multiple sclerosis; RA, rheumatoid arthritis; SLE, systemic lupus erythematosus; SpA, spondyloarthropathy; T1D, type 1 diabetes; UC, ulcerative colitis.