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Epigenetic fine-mapping: identification of causal mechanisms for autoimmunity
Matthew R Lincoln1, Pierre-Paul Axisa2, David A Hafler1
1Departments of Neurology and Immunobiology, Yale School of Medicine, New Haven, CT, USA; Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Abstract:
Genome-wide association studies (GWAS) have identified genetic susceptibility loci for a variety of autoimmune and inflammatory diseases. These studies confirm the fundamental genetic basis of individual autoimmune diseases, and also point to shared etiological mechanisms across the spectrum of autoimmunity. While hundreds of genetic loci have been implicated in autoimmune diseases, the translation of individual susceptibility loci into specific molecular mechanisms for individual diseases remains difficult. This review highlights recent advances in the genetics of autoimmune disease, and the emerging use of epigenetic techniques to identify pathogenic cell types and causal molecular mechanisms of autoimmunity.
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