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Trends Immunol. 2013 Jan;34(1):22-6. doi: 10.1016/ Epub 2012 Sep 29.

Immune-mediated disease genetics: the shared basis of pathogenesis.

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Department of Neurology, Yale School of Medicine, New Haven, CT 06510, USA.


Recent genetic studies in multiple autoimmune and inflammatory diseases have identified hundreds of genomic loci harboring risk variants. These variants are shared between diseases at unexpectedly high rates, providing a molecular basis for the shared pathogenesis of immune-mediated disease. If properly used, these results could allow us to identify specific pathways underlying disease; explain disease heterogeneity by grouping patients by molecular causes rather than overall symptomatology; and develop more rational approaches to diagnosis and therapy targeting these molecular defects. Here we review the current state of play in the genetics of immune-mediated disease, evidence for this sharing and how this new knowledge can lead to medically actionable discoveries of pathobiology.

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