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Emerging patterns of genetic overlap across autoimmune disorders

Corinne Richard-Miceli1 and Lindsey A Criswell2*

Author Affiliations

1 Université Paris-Sud 11, Rhumatologie, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris (AP-HP), Le Kremlin Bicêtre, France

2 University of California San Francisco, Rosalind Russell Medical Research Center for Arthritis, Department of Medicine, Parnassus Avenue, San Francisco, CA 94143, USA

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Genome Medicine 2012, 4:6  doi:10.1186/gm305

Published: 27 January 2012


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.