Cookie Notice

This site uses cookies. By continuing to browse this site, you are agreeing to our use of cookies. Review our cookies information for more details.

skip to main content

Symptoms and active genes differ in boys and girls with eosinophilic esophagitis

Published: July 12, 2021

Eosinophilic esophagitis (EoE) is a disease with variable upper gastrointestinal symptoms and eosinophil predominant inflammation in the esophagus. A cutoff of 15 eosinophils/high power field in biopsies has been suggested as the lower limit for diagnosis. Eosinophilic esophagitis has been reported to be more common in males and in allergic patients. Years of uncontrolled inflammation can lead to scarring and narrowing of the esophagus and the need for esophageal dilation. The possibility of different subgroups of EoE patients has been proposed but is not well understood.

Gene expression is the process by which DNA is changed to proteins, and this process can be increased or decreased due to signals in the environment. Microarray measures gene expression, and it has been used to distinguish EoE from other diseases of the esophagus such as gastroesophageal reflux, as well as providing insights into potential causes of EoE. Previous EoE microarray studies have mainly used esophageal biopsies. For their recent study published in The Journal of Allergy and Clinical Immunology: In Practice, Erwin and colleagues obtained blood samples at the time of EoE diagnosis from a group of 41 pediatric patients (27 males and 14 females aged 2-17 years) to measure gene expression patterns using microarray and determine if gene expression varies in different groups of EoE patients.

They compared gene expression in 21 EoE patients and 12 healthy controls and found 544 genes differently expressed. To validate the expression differences, they used these 544 genes to correctly sort 20 additional EoE patients from the controls. The numerical RNA expression score, called molecular distance to health (MDTH), was greater in EoE patients than controls (p=0.003).  They used the same strategy to look at gene expression between males (294 gene differences from controls) and females (643 gene differences from controls). Only 37 of these genes were similarly expressed in male and female EoE patients. When analyzed for symptoms based on age and sex, males >13 years were more likely to have food impactions (p=0.033) and had higher endoscopic severity scores (p=0.036).

The study identified a reproducible pattern of gene expression in blood samples from EoE patients compared with healthy controls. Additionally, this is the first study to link symptom differences in groups of EoE patients with differences in gene expression, and it demonstrates that EoE in males and females is not the same disease in terms of gene expression.

The Journal of Allergy and Clinical Immunology: In Practice is an official journal of the AAAAI, focusing on practical information for the practicing clinician.

Full Article