Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
Journal: Nature Genetics
Published:
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
Marc Rothenberg, Jonathan Spergel, Joseph Sherrill, Kiran Annaiah, Lisa Martin, Antonella Cianferoni, Laura Gober, Cecilia Kim, Joseph Glessner, Edward Frackelton, Kelly Thomas, Carine Blanchard, Chris Liacouras, Ritu Verma, Seema Aceves, Margaret Collins, Terri Brown Whitehorn, Phil Putnam, James Franciosi, Rosetta Chiavacci, Struan F Grant, J Abonia, Patrick M Sleiman, Hakon Hakonarson
Relevant Conditions