Document Detail


Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
MedLine Citation:
PMID:  20208534     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Marc E Rothenberg; Jonathan M Spergel; Joseph D Sherrill; Kiran Annaiah; Lisa J Martin; Antonella Cianferoni; Laura Gober; Cecilia Kim; Joseph Glessner; Edward Frackelton; Kelly Thomas; Carine Blanchard; Chris Liacouras; Ritu Verma; Seema Aceves; Margaret H Collins; Terri Brown-Whitehorn; Phil E Putnam; James P Franciosi; Rosetta M Chiavacci; Struan F A Grant; J Pablo Abonia; Patrick M A Sleiman; Hakon Hakonarson
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2010-03-07
Journal Detail:
Title:  Nature genetics     Volume:  42     ISSN:  1546-1718     ISO Abbreviation:  Nat. Genet.     Publication Date:  2010 Apr 
Date Detail:
Created Date:  2010-03-29     Completed Date:  2010-04-16     Revised Date:  2014-09-14    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  289-91     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Child
Chromosomes, Human, Pair 5*
Cytokines / genetics*
Eosinophils / pathology*
Esophagitis / genetics*,  pathology
Eye Proteins / genetics
Genome-Wide Association Study
Humans
Polymorphism, Single Nucleotide
Grant Support
ID/Acronym/Agency:
R01 AI083450/AI/NIAID NIH HHS; R01 DK076893/DK/NIDDK NIH HHS; R01 DK076893/DK/NIDDK NIH HHS; U19 AI070235/AI/NIAID NIH HHS
Chemical
Reg. No./Substance:
0/Cytokines; 0/Eye Proteins; 0/WDR36 protein, human; 0/thymic stromal lymphopoietin
Comments/Corrections

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