[HTML][HTML] Gender-specific differences in the molecular signatures of adult Eosinophilic Eosophagitis

N Gonsalves, S Berdnikovs, H Schroeder… - … allergy: journal of the …, 2017 - ncbi.nlm.nih.gov
N Gonsalves, S Berdnikovs, H Schroeder, A Zalewski, PJ Bryce
Clinical and experimental allergy: journal of the British Society for …, 2017ncbi.nlm.nih.gov
The influence of gender on the prevalence, presentation and pathogenesis of allergic
diseases is being increasingly recognized [1]. Eosinophilic Eosophagitis (EoE) is a chronic
inflammatory disorder of the esophagus, seen in both children and adults, and is 3–4 times
more common in males than females [2]. Diagnosis of EoE has relied on quantification of
eosophageal eosinophils by biopsy and patient-reported symptoms but recent studies have
supported the use of tissue-based molecular biomarker assessment, based on gene …
The influence of gender on the prevalence, presentation and pathogenesis of allergic diseases is being increasingly recognized [1]. Eosinophilic Eosophagitis (EoE) is a chronic inflammatory disorder of the esophagus, seen in both children and adults, and is 3–4 times more common in males than females [2]. Diagnosis of EoE has relied on quantification of eosophageal eosinophils by biopsy and patient-reported symptoms but recent studies have supported the use of tissue-based molecular biomarker assessment, based on gene expression signatures [3], aiding patient diagnosis [4]. Strong correlations between gene expression profiles and symptoms were found, particularly dysphagia [4]. Early work looking at the EoE-associated transcriptional profile concluded that there were no differences between males and females [5] but this was performed in childhood EoE and recent studies have demonstrated that gender significantly influences the clinical presentation of adult EoE, particularly dysphagia [6–8]. We investigated whether the EoE-associated transcriptional profile of biopsies from adult EoE patients displays differences related to gender.
We assessed the molecular expression patterns of 40 genes associated with specific aspects of EoE pathology, including epithelial barrier, eosinophils, mast cells and cellular proliferation, in pretreatment biopsies from male and female control or EoE patients. Based on a power calculation of sample size required to detect a 30% difference between EoE patients with an alpha probability of 0.05 and power of 0.80 for the gene MS4A2, which encodes the β chain of the high affinity IgE receptor that we have previously described as elevated in adult EoE [9], we investigated the gene expression profiles of 22 adult EoE patients (11 male, 11 female) versus 15 control patients (4 male, 11 female). All patients were undergoing routine assessment for EoE at gastroenterology clinics at Northwestern Memorial Hospital and consented to biopsies for research under IRB approval number STU00021171. Control patients were undergoing assessment for eosophageal complaints
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