The translation from genetic knowledge to a molecular understanding of disease is contributing to the development of improved diagnostic and therapeutic products. Here, we examine the progress in molecular understanding of autoimmune disease that has been facilitated by genetic approaches, from candidate gene studies to genetic linkage and, more recently, genome-wide association studies. We concentrate primarily on progress in the genetics of type 1 diabetes, multiple sclerosis, and systemic lupus erythematosus, and draw attention to parallels and contrasts between these diseases, other autoimmune diseases, and other immune diseases. We discuss selected gene loci where functional data have contributed to our knowledge of molecular mechanisms of disease. © 2014 Elsevier Inc. All rights reserved.
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