Genetic markers associated with eosinophilic esophagitis (EoE) have been identified, suggesting that several genes are involved in the development of EoE. The results from this study, funded by the Consortium of Food Allergy Research, were published in the journal Nature Genetics.

Researchers at Cincinnati Children’s Hospital Medical Center in Cincinnati, OH examined the human genome for variations between 9,246 healthy patients and 736 EoE patients. They discovered that those with variations in the chromosome 5 region containing TSLP, which has been associated with allergic diseases, were also associated with a greater risk of developing EoE. Also identified were variations in a chromosome 2 region containing CAPN14, responsible for producing the enzyme calpain 14, that were linked to a higher EoE risk. CAPN14 expression and calpain activity increased as cultured esophageal cells were treated with a molecule that provokes allergic inflammation, which may suggest that EoE patients with the variation of CAPN14 may be unable to respond with proper anti-inflammatory responses.

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Additional research is needed to evaluate if identifying biomarkers could assist in detecting an individual’s risk of developing EoE, as well as the development of new diagnostics and treatments for the disease.

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