4.8 Article

Common variants at 5q22 associate with pediatric eosinophilic esophagitis

Journal

NATURE GENETICS
Volume 42, Issue 4, Pages 289-291

Publisher

NATURE PUBLISHING GROUP
DOI: 10.1038/ng.547

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Funding

  1. US National Institutes of Health (NIH) [U19 AI070235, NIH R01 DK076893]
  2. Food Allergy Project
  3. Campaign Urging Research for Eosinophilic Disorders (CURED) Foundation
  4. American Partnership for Eosinophilic Disorders (APFED)
  5. Children's Hospital of Philadelphia
  6. Buckeye Foundation
  7. Coltswold Foundation

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Eosinophilic esophagitis (EoE) is an allergic disorder characterized by the accumulation of eosinophils in the esophagus. We report association of EoE with variants at chromosome 5q22 encompassing TSLP and WDR36 (rs3806932, combined P = 3.19 x 10(-9)). TSLP is overexpressed in esophageal biopsies from individuals with EoE compared with unaffected individuals, whereas WDR36 expression is unaltered between the two groups. These data implicate the 5q22 locus in the pathogenesis of EoE and identify TSLP as the most likely candidate gene in the region.

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