What is the Research Study About?
EoE therapeutic guidelines now support Proton Pump Inhibitor (PPI) medications as a therapy for eosinophilic esophagitis (EoE). Unfortunately, individual response to PPIs for treatment of EoE is highly variable (15-70%). Because of this, research to identify which patients may respond to PPI therapy has become increasingly important. We have developed a pioneering, internationally recognized team of translational researchers in the field of Proton Pump Inhibitor Responsive Eosinophilic Esophagitis (PPIREE) to identify the factors that contribute to individual variability in response. We are investigating how specific genetic variations affect the way children metabolize proton pump inhibitors and how this associates with health outcomes and side effects such as increased rates of infection.
How Can Genetics Influence Response to PPI Therapy for EoE?
People who carry the gene for an enzyme that has enhanced activity for metabolizing PPIs (EM) are more likely to fail PPI therapy for EoE than normal metabolizers (NM) (Figure 1A). Genetic variants in the signaling pathway responsible for recruiting eosinophils to the esophagus in EoE, can also influence response to PPI for EoE (Figure 1B). Individuals who carry signaling pathway variants that associate with increased recruitment of eosinophils to the esophagus in EoE are more likely to fail to respond to PPI for EoE.