Bulk RNA-seq of duodenal mucosa of potential Celiac disease with progression

Celiac disease (CeD) is an immune-mediated chronic enteropathy caused by gluten exposure in HLA-DQ2 and/or -DQ8 positive individuals. The hallmarks of CeD include increased intraepithelial lymphocytes and villous atrophy. Clinically, a small subset of individuals with elevated serum tissue transglutaminase antibody (TTG) concentrations but unremarkable duodenal mucosa at initial endoscopy may progress to CeD over time. We hypothesize that these rare CeD precursor cases can allow us to interrogate histologic and molecular signatures to predict those who subsequently develop CeD, and to study the final cascade into overt lesions in CeD. Overall design: Formalin-fixed paraffin embedded (FFPE) duodenal biopsies were analyzed by bulk RNA-seq. Transcriptomes of duodenum from CeD precursor children were compared with those of children with CeD and children with normal duodenum and negative Celiac serology (negative control).