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| Name | Class |
|---|---|
| National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | NIH |
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This study will establish a registry for participants with eosinophilic esophagitis (EoE) and create a research resource that will provide further insights into EoE.
Eosinophilic esophagitis (EoE) is a newly recognized chronic disease that is increasingly being diagnosed in children and adults. Many patients with EoE also have food allergies. EoE is characterized by inflammation and accumulation of a specific type of immune cell, called an eosinophil, in the esophagus. While there have been several large studies of EoE, very few have focused on the roles the immune system, genetics/heredity, and the environment in EoE.
The samples and information collected from participants will help to identify and understand the genetic mechanisms underlying eosinophilic esophagitis.
The Cincinnati Children's Hospital Medical Center will serve as the Central Laboratory for genetic characterization studies.
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| Measure | Description | Time Frame |
|---|---|---|
| Elucidate the genetic components of EoE, focusing on a candidate gene approach the TSLP/WDR36 locus and through GWAS analysis | A Genome-Wide Association Study (GWAS) analysis of single-nucleotide polymorphisms (SNPs) from >1.5 million genetic markers will be conducted. | 48 months |
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Inclusion Criteria:
Exclusion Criteria:
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Participants with biopsy proven Eosinophilic Esophagitis
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| Name | Affiliation | Role |
|---|---|---|
| Marc E. Rothenberg, M.D., Ph.D. | Children's Hospital Medical Center, Cincinnati | Principal Investigator |
| Mirna Chehade, MD, MPH | Mt. Sinai School of Medicine | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Arkansas Children's Hospital | Little Rock | Arkansas | 72202 | United States | ||
| National Jewish Health |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 25017104 | Result | Kottyan LC, Davis BP, Sherrill JD, Liu K, Rochman M, Kaufman K, Weirauch MT, Vaughn S, Lazaro S, Rupert AM, Kohram M, Stucke EM, Kemme KA, Magnusen A, He H, Dexheimer P, Chehade M, Wood RA, Pesek RD, Vickery BP, Fleischer DM, Lindbad R, Sampson HA, Mukkada VA, Putnam PE, Abonia JP, Martin LJ, Harley JB, Rothenberg ME. Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. Nat Genet. 2014 Aug;46(8):895-900. doi: 10.1038/ng.3033. Epub 2014 Jul 13. |
| Label | URL |
|---|---|
| National Institute of Allergy and Infectious Diseases (NIAID) | View source |
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| ID | Term |
|---|---|
| D004941 | Esophagitis |
| D057765 | Eosinophilic Esophagitis |
| ID | Term |
|---|---|
| D004935 | Esophageal Diseases |
| D005767 | Gastrointestinal Diseases |
| D004066 | Digestive System Diseases |
| D005759 | Gastroenteritis |
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blood and saliva
| Denver |
| Colorado |
| 80206 |
| United States |
| Johns Hopkins University | Baltimore | Maryland | 21287 | United States |
| Mount Sinai School of Medicine | New York | New York | 10029 | United States |
| University of North Carolina | Chapel Hill | North Carolina | 27599 | United States |
| National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | View source |
| D004802 | Eosinophilia |
| D007960 | Leukocyte Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D006969 | Hypersensitivity, Immediate |
| D006967 | Hypersensitivity |
| D007154 | Immune System Diseases |