Commentary: An Allele-Specific Functional SNP Associated with Two Systemic Autoimmune Diseases Modulates IRF5 Expression by Long-Range Chromatin Loop Formation

© 2020 Yang TL. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License. Systemic Lupus Erythematosus (SLE) and Systemic Sclerosis (SSc) are two typical inflammatory systemic autoimmune diseases sharing similar pathogenic features. Genetic factors play important roles in the pathogenesis of both diseases1. We have witnessed huge success of genome-wide association studies (GWASs) in identifying hundreds of susceptibility genetic variants associated with SLE and SSc, however, over 90% of which are located in noncoding regions. It is challenging and important to translate GWAS findings into biological insights towards clinical applications. Currently, compared with traditional genetic association studies, functional studies characterizing causal functional variants and downstream molecular mechanisms at disease susceptibility loci are still orders of magnitude fewer.