RGD Reference Report - Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. - Rat Genome Database

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

Authors: Kottyan, LC  Davis, BP  Sherrill, JD  Liu, K  Rochman, M  Kaufman, K  Weirauch, MT  Vaughn, S  Lazaro, S  Rupert, AM  Kohram, M  Stucke, EM  Kemme, KA  Magnusen, A  He, H  Dexheimer, P  Chehade, M  Wood, RA  Pesek, RD  Vickery, BP  Fleischer, DM  Lindbad, R  Sampson, HA  Mukkada, VA  Putnam, PE  Abonia, JP  Martin, LJ  Harley, JB  Rothenberg, ME 
Citation: Kottyan LC, etal., Nat Genet. 2014 Aug;46(8):895-900. doi: 10.1038/ng.3033. Epub 2014 Jul 13.
RGD ID: 11100049
Pubmed: PMID:25017104   (View Abstract at PubMed)
PMCID: PMC4121957   (View Article at PubMed Central)
DOI: DOI:10.1038/ng.3033   (Journal Full-text)

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=1.9x10(-16)), we identified an association at 2p23 spanning CAPN14 (P=2.5x10(-10)). CAPN14 was specifically expressed in the esophagus, was dynamically upregulated as a function of disease activity and genetic haplotype and after exposure of epithelial cells to interleukin (IL)-13, and was located in an epigenetic hotspot modified by IL-13. Genes neighboring the top 208 EoE-associated sequence variants were enriched for esophageal expression, and multiple loci for allergic sensitization were associated with EoE susceptibility (4.8x10(-2)



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CAPN14Humaneosinophilic esophagitis  IEP mRNA:increased expression:esophagusRGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CAPN14HumanAbnormal eosinophil morphology  IAGP DNA:snps:multipleRGD 
Objects Annotated

Genes (Homo sapiens)
CAPN14  (calpain 14)


Additional Information