Literature DB >> 20208534

Common variants at 5q22 associate with pediatric eosinophilic esophagitis.

Marc E Rothenberg1, 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.   

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.

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Year:  2010        PMID: 20208534      PMCID: PMC3740732          DOI: 10.1038/ng.547

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  17 in total

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Authors:  Michael R Konikoff; Carine Blanchard; Cassie Kirby; Bridget K Buckmeier; Mitchell B Cohen; James E Heubi; Philip E Putnam; Marc E Rothenberg
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  190 in total

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