Experimental design of the search for new functional polymorphisms in IRF5. Polymorphisms for functional screening were selected on the basis of correlation with systemic lupus erythematosus (SLE) protection or prominent role is IRF5 cis-regulation models. A first functional screen by electrophoretic mobility shift assay (EMSA) was applied to the 26 selected polymorphisms, and a second screen with reporter gene assays was applied to the 7 polymorphisms with differential EMSA results. *More single-nucleotide polymorphisms (SNPs) were possible, but they had already been selected in previous groups to the right. RNA-seq = RNA sequencing.
Alonso-Perez et al. Arthritis Research & Therapy 2013 15:R82 doi:10.1186/ar4262