Genome-wide association studies: a new window into immune-mediated diseases

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Abstract
Genome-wide association (GWA) studies have dramatically influenced our ability to identify genetic risk factors for complex immune-mediated diseases. We provide the information necessary for immunologists to better understand the rapid advances in our knowledge of genetic variation and in the technologies to probe this variation, which have enabled GWA studies. In addition, both the analytical challenges and the strengths of these types of studies are discussed. GWA studies of immune-mediated diseases, including Crohn's disease, multiple sclerosis, rheumatoid arthritis and systemic lupus erythematosus, have enabled the discovery of previously unknown factors that influence disease susceptibility and/or pathology. Knowledge gained from these GWA studies can reveal how previously unrecognized biological pathways might contribute to disease pathogenesis. This research points toward the involvement of some pathways that are specific to one immune-mediated disease and others that are common to several different diseases. Despite the success of GWA studies, several challenges lie ahead: how can we complete the mechanistic picture of how genetic variation in multiple different genes leads to disease development? How will these data impact the design of future immunology studies, and how can we apply this knowledge to clinical practice in the future?