What role does genetics play in Eosinophilic Esophagitis?

Published online: February 10, 2017

Eosinophilic esophagitis (EoE) is an allergic disease of the esophagus that results in difficulty swallowing, poor weight gain in children, chest pain, and food aversion. There has been controversy over whether this disease has a stronger contribution from hereditary/genetic factors or from environmental factors. Previous studies have shown that first-degree relatives (e.g., siblings) of an individual diagnosed with EoE are at increased risk of EoE suggesting a role for genetic factors, but twin studies have suggested a strong role for environmental factors.

In a research article published in The Journal of Allergy & Clinical Immunology (JACI), Allen-Brady and colleagues used the Utah Population Database, a database which links genealogy information for residents of Utah to electronic medical records for ~85% of the state’s population, to identify EoE cases and relationships between them.

Using over 4000 EoE cases and age, sex, and birthplace–matched controls, the researchers found that the contribution from genetic factors to EoE was similar to the contribution from genetic factors to colon cancer. They found a significant increased risk of EoE among first-degree relatives, particularly first-degree relatives of EoE cases diagnosed <18 years of age, second degree relatives, and first cousins. The researchers also found a small, but significant, number of unrelated spouses of EoE cases were affected with EoE, suggesting either contributions from shared environmental factors or the selection of a marriage partner being influenced by similar backgrounds (e.g., similar dietary restrictions).  

The researchers concluded that while environmental factors likely also contribute to EoE, because of the increased risk of EoE seen in distant relatives who are less likely to share the same household environments, there is evidence for a significant genetic contribution to EoE.

The Journal of Allergy and Clinical Immunology (JACI) is the official scientific journal of the AAAAI, and is the most-cited journal in the field of allergy and clinical immunology.

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