Genetic variants associated with the inflammatory disease eosinophilic esophagitis (EoE), which leads to the constriction of the throat, are reported in a study published online this week in Nature Genetics. The results of the study help explain why this allergic disease only affects the esophagus.
EoE is a disease that causes stiffening of the esophagus and leads to heartburn and problems with swallowing solid food. Previous studies have reported that eosinophils, a type of white blood cell that causes inflammation, accumulate in the esophagus in response to an unknown allergy in EoE patients.
Marc Rothenberg and colleagues looked for genetic variants associated with EoE to help explain why this disease specifically affects the esophagus. They found three regions that had not previously been associated with EoE and confirmed a fourth region that was found in an earlier study. One of the newly implicated genes, CAPN14, is expressed at high levels specifically in the esophagus, but at reduced levels in individuals with the risk-associated variant. CAPN14 produces a type of protein responsible for many important cellular functions, including allergic response.