Shared genetic factors and their causality in autoimmune diseases

Abstract

Since 2007, rapid advances in genome-wide association study (GWAS) have enhanced the identification of hundreds of genetic risk factors for many complex diseases. [...]it has been reported that genetic variants associated with one autoimmune disease likely confer risk to other diseases (ie, pleiotropy).5 For example, an interesting approach for a GWAS meta-analysis examining RA and coeliac disease identified a number of loci with pleiotropic effects.6 Recently, two large studies combining several diseases were performed. [...]the gene-product of TYK2 is targeted by tofacitinib and baricitinib, Janus kinase inhibitors. Since an intronic SNP, rs1185725, within TYK2 is associated with IIM, SLE and SSc, these drugs are reasonable candidates for therapy repositioning in these diseases. [...]it is possible to propose that disease definition in rheumatic diseases would be flexible based on several different variables including extensive clinical data, genotype, gene expression and available multiple omics.