Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease

@inproceedings{Kottyan2014GenomewideAA,
  title={Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease},
  author={Leah C. Kottyan and Benjamin P Davis and Joseph D. Sherrill and Kan Liu and Mark Rochman and Kenneth M Kaufman and Matthew T. Weirauch and Samuel E. Vaughn and Sara Lazaro and Andrew M. Rupert and Mojtaba Kohram and Emily M. Stucke and Katherine A. Kemme and Albert F. Magnusen and Hua He and Phillip Joseph Dexheimer and Mirna Chehade and Robert B. Wood and Robert D. Pesek and Brian P. Vickery and David M. Fleischer and Robert Lindbad and Hugh A Sampson and Vince A Mukkada and Phil E. Putnam and Juan Pablo Abonia and Lisa J Martin and John Barker Harley and Marc E Rothenberg},
  booktitle={Nature Genetics},
  year={2014}
}
Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder associated with allergic hypersensitivity to food. We interrogated >1.5 million genetic variants in EoE cases of European ancestry and subsequently in a multi-site cohort with local and out-of-study control subjects. In addition to replicating association of the 5q22 locus (meta-analysis P = 1.9 × 10−16), we identified an association at 2p23 spanning CAPN14 (P = 2.5 × 10−10). CAPN14 was specifically expressed in the esophagus… CONTINUE READING