Common variants at 5q22 associate with pediatric eosinophilic esophagitis

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Abstract
Hakon Hakonarson and colleagues identify variants near TSLP at 5q22 associated with pediatric eosinophilic esophagitis. They further show that TSLP is overexpressed in esophageal biopsies of cases compared to controls and that the risk variants are associated with elevated TSLP expression. 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 × 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.