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

• Autores: Chris Cotsapas, David A. Hafler
• Localización: Trends in immunology, ISSN 1471-4906, Vol. 34, Nº. 1, 2013, págs. 22-26
• Idioma: inglés
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• Resumen

  • 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.