TGF-Beta Gene Polymorphisms in Food Allergic versus Non-Food Allergic Eosinophilic Esophagitis

: The diagnosis of eosinophilic esophagitis (EoE) is based on the presence of or = 15 eosinophils/hpf in the esophagus of a patient with symptoms of esophageal dysfunction in whom GERD is excluded. EoE is likely mediated by interaction of environmental allergens (such as foods) with several genes. Food antigens play an essential role in EoE since specific food elimination diets and amino acid formulas are successful EoE therapy in 60-98% of subjects. Indeed, the majority of children with EoE have specific IgE to foods but they often continue to ingest these foods due to lack of immediate hypersensitivity reactions. This study focuses on the gene-environment interaction of food consumption in food sensitized children with EoE and TGFb1 gene polymorphisms. We hypothesize that in EoE there is a gene polymorphism (TGFb1) environment (food) interaction that contributes to increased IgE mediated TGFb1 expression in the esophagus and increased esophageal remodeling in a subset of EoE subjects. As esophageal stricture formation is an important complication of remodeling in EoE (6-12% of children; 33% of adults), identifying genetic polymorphisms in TGFb1 in EoE may allow the early identification of food sensitized children at risk for the development of this significant complication of EoE.