Researchers have identified four new genes associated with eosinophilic esophagitis (EoE), a newly-recognized type of severe food allergy. The allergic response is a sort of combination of other food allergies coming together to create restricted airways.
The hallmark of EoE is inflammation and painful swelling in the esophagus, along with high levels of immune cells called eosinophils. It can affect people of any age, but is more common among young men who have a history of other allergic diseases such as asthma and eczema. It’s most often first discovered in babies and young children with suspected food allergies.
“This research adds to the evidence that genetic factors play key roles in EoE, and broadens our knowledge of biological networks that may offer attractive targets for therapy,” said study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children’s Hospital of Philadelphia (CHOP).
This new research, published this month online in Nature Communications, builds on a 2010 study by Hakonarson which found a key marker in a genetic link to food allergies. This new study included 603 EoE-diagnosed patients and 3.637 control subjects in a genome-wide association test. It was then replicated in another group of 333 EoE patients and 675 controls. Four new genes (novel-loci) were significantly associated with EoE in both studies. Two of them are associated with both allergies and autoimmune diseases.
This research could lead to new treatment options as it opens up targets for testing possibilities in that regard for both pharmaceutical intervention and early detection and diagnosis.