rs118086209 - CCDC81

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease - Unknown journal (n.d.) · Unknown authors · PubMed 25017104

  ABSTRACT: Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder associated with allergic hypersensitivity to food. We interrogated >1.5 million genetic variants in European EoE cases and subsequently in a multi-site cohort with local and out-of-study control subjects. In addition to replication of the 5q22 locus (meta-analysis p = 1.9×10−16), we identified association at 2p23 (encoding CAPN14, p = 2.5×10−10). CAPN14 was specifically expressed in the esophagus, dynamically upregulated as a function of disease activity and genetic haplotype and after exposure of epithelial cells to IL-13, and located in an epigenetic hotspot modified by IL-13. There was enriched esophageal expression for the genes neighboring the top 208 EoE sequence variants. Multiple allergic sensitizatio

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