title: Immune-mediated disease genetics: the shared basis of pathogenesis.
abstract: 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.
authors.affiliation: Department of Neurology, Yale School of Medicine, New Haven, CT 06510, USA. chris.cotsapas@yale.edu
authors.forename: Chris
authors.initials: C
authors.lastname: Cotsapas
authors.forename: David A
authors.initials: DA
authors.lastname: Hafler
mesh_terms: D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D055106:Genome-Wide Association Study; D006801:Humans; D007107:Immune System / Q000276:immunology*; D012307:Risk Factors