Defining the function of genes associated with chronic inflammatory diseases: The nCounter® Autoimmune Discovery Consortium Panel

Our limited understanding of the pathogenic mechanisms involved in chronic inflammatory diseases hampers early diagnosis and the development of more specific and effective therapies. In past years, genome-wide association studies (GWAS) provided detailed information about the genetic variants associated with chronic inflammatory diseases. GWAS highlighted many genes linked to signaling pathways that were not known to be involved in pathogenesis and pointed to new directions in the study of disease mechanisms. However, for most genetic variants, the mechanism by which they affect pathogenesis and the targeted cell populations remained unknown.

The challenge of the post-GWAS era is to understand how genetic variants affect pathogenesis. Therefore, it is necessary to design dedicated studies for the simultaneous analysis of cellular signaling pathways and genetic networks in samples to establish a link between genotype, cellular phenotype/function, and pathology. We collaborated with NanoString® to create the  nCounter® Autoimmune Discovery Consortium Panel, allowing precise and robust gene expression measurements of genes associated with nine chronic inflammatory diseases: Multiple Sclerosis (104 genes), Rheumatoid Arthritis (95 genes), Systemic Lupus Erythematosus (55 genes), Type 1 Diabetes (44 genes), Spondyloarthritis/Ankylosing spondylitis (43 genes), Crohn’s Disease (249 genes), Ulcerative Colitis (201 genes), Inflammatory Bowel Disease (253 genes) and Psoriasis (48 genes). The panel also targets 237 genes involved in the regulation of immune responses and 15 internal reference genes.