Accession Number ADA567625
Title Genetics of Eosinophilic Esophagitis.
Publication Date Mar 2012
Media Count 36p
Personal Author M. Rothenberg
Abstract Eosinophilic esophagitis (EE) is an emerging worldwide food allergic disorder associated with polysensitization to multiple food allergens, resulting in greatly restricted diets and chronic gastroesophageal reflux disease-like symptoms in many individuals. EE has a strong genetic component based on the frequent presence of a familial inheritance pattern, the high sibling risk ratio (approximately 80-fold) and the demonstration that a single nucleotide polymorphism (SNP) in the eotaxin-3 gene confers disease susceptibility. In order to dissect disease pathogenesis in humans, we are now taking genetic approaches based on genome-wide expression profile analysis of esophageal tissue, as well as a genomic analysis based on a candidate gene approach. The central hypothesis of our grant is that EE has strong genetic components that can be elucidated by a candidate gene approach focused on genes involved in asthma, allergy, and celiac disease. Using this approach, our preliminary studies have led us to hypothesize that EE susceptibility involves the IL-2/IL- 21 genetic locus, a region known to be involved in immune-mediated diseases, especially autoimmunity. We have been pursuing candidate gene validation (Aim 1) and biological assessment of one lead candidate, IL-21 (Aim 2). We have identified preliminary genetic susceptibility loci involved in EE, which has led us to the identification of key potential pathogenic steps involving TSLP, IL21, and TGFb.
Keywords Allergic diseases
Eosinophils
Esophagus
Food
Genetics
Inflammation
Order disorder transformations


 
Source Agency Non Paid ADAS
NTIS Subject Category 57F - Cytology, Genetics, & Molecular Biology
57A - Anatomy
57S - Physiology
57E - Clinical Medicine
Corporate Author Children's Hospital Medical Center, Cincinnati, OH.
Document Type Technical report
Title Note Final rept. 1 Mar 2010-29 Feb 2012.
NTIS Issue Number 1309
Contract Number W81XWH-10-1-0167

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