title: Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
abstract: 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.
authors.affiliation: Division of Allergy and Immunology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
authors.forename: Marc E
authors.initials: ME
authors.lastname: Rothenberg
authors.forename: Jonathan M
authors.initials: JM
authors.lastname: Spergel
authors.forename: Joseph D
authors.initials: JD
authors.lastname: Sherrill
authors.forename: Kiran
authors.initials: K
authors.lastname: Annaiah
authors.forename: Lisa J
authors.initials: LJ
authors.lastname: Martin
authors.forename: Antonella
authors.initials: A
authors.lastname: Cianferoni
authors.forename: Laura
authors.initials: L
authors.lastname: Gober
authors.forename: Cecilia
authors.initials: C
authors.lastname: Kim
authors.forename: Joseph
authors.initials: J
authors.lastname: Glessner
authors.forename: Edward
authors.initials: E
authors.lastname: Frackelton
authors.forename: Kelly
authors.initials: K
authors.lastname: Thomas
authors.forename: Carine
authors.initials: C
authors.lastname: Blanchard
authors.forename: Chris
authors.initials: C
authors.lastname: Liacouras
authors.forename: Ritu
authors.initials: R
authors.lastname: Verma
authors.forename: Seema
authors.initials: S
authors.lastname: Aceves
authors.forename: Margaret H
authors.initials: MH
authors.lastname: Collins
authors.forename: Terri
authors.initials: T
authors.lastname: Brown-Whitehorn
authors.forename: Phil E
authors.initials: PE
authors.lastname: Putnam
authors.forename: James P
authors.initials: JP
authors.lastname: Franciosi
authors.forename: Rosetta M
authors.initials: RM
authors.lastname: Chiavacci
authors.forename: Struan F A
authors.initials: SF
authors.lastname: Grant
authors.forename: J Pablo
authors.initials: JP
authors.lastname: Abonia
authors.forename: Patrick M A
authors.initials: PM
authors.lastname: Sleiman
authors.forename: Hakon
authors.initials: H
authors.lastname: Hakonarson
mesh_terms: D002648:Child; D002895:Chromosomes, Human, Pair 5; D016207:Cytokines / Q000235:genetics*; D004804:Eosinophils / Q000473:pathology*; D004941:Esophagitis / Q000235:genetics* / Q000473:pathology; D005136:Eye Proteins / Q000235:genetics; D055106:Genome-Wide Association Study; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D000094632:Thymic Stromal Lymphopoietin
chemical_list: D016207:Cytokines; D005136:Eye Proteins; C502341:WDR36 protein, human; D000094632:Thymic Stromal Lymphopoietin