Pediatrics researchers have identified the first major gene location responsible for a severe, often painful food allergy called eosinophilic esophagitis (EoE). In this disease, which may cause weight loss, vomiting, heartburn and swallowing difficulties, a patient may be unable to eat a wide variety of foods. A genome-wide association study found EoE was linked to a region of chromosome 5 that includes two genes.

"This gene is a plausible candidate because of its biological role in allergic inflammation," said study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia.
"Eosinophilic esophagitis is a highly allergic disease, and one that is rapidly expanding," said allergist Jonathan M. Spergel, M.D., a co-first author of the study, who sees large numbers of patients with EoE as director of the Center for Pediatric Eosinophilic Disorders at The Children's Hospital of Philadelphia. "This is the first genome-wide association study done on this disease, and now that we have elucidated a gene pathway, the hope is that physicians can eventually intervene in that pathway and discover a new treatment."