Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
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.
Rothenberg
Marc E
ME
Division of Allergy and Immunology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Spergel
Jonathan M
JM
Sherrill
Joseph D
JD
Annaiah
Kiran
K
Martin
Lisa J
LJ
Cianferoni
Antonella
A
Gober
Laura
L
Kim
Cecilia
C
Glessner
Joseph
J
Frackelton
Edward
E
Thomas
Kelly
K
Blanchard
Carine
C
Liacouras
Chris
C
Verma
Ritu
R
Aceves
Seema
S
Collins
Margaret H
MH
Brown-Whitehorn
Terri
T
Putnam
Phil E
PE
Franciosi
James P
JP
Chiavacci
Rosetta M
RM
Grant
Struan F A
SF
Abonia
J Pablo
JP
Sleiman
Patrick M A
PM
Hakonarson
Hakon
H
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
D016207:Cytokines; D005136:Eye Proteins; C502341:WDR36 protein, human; D000094632:Thymic Stromal Lymphopoietin