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GWAS identifies four novel eosinophilic esophagitis loci.

Authors: Sleiman, PM  Wang, ML  Cianferoni, A  Aceves, S  Gonsalves, N  Nadeau, K  Bredenoord, AJ  Furuta, GT  Spergel, JM  Hakonarson, H 
Citation: Sleiman PM, etal., Nat Commun. 2014 Nov 19;5:5593. doi: 10.1038/ncomms6593.
Pubmed: (View Article at PubMed) PMID:25407941
DOI: Full-text: DOI:10.1038/ncomms6593

Eosinophilic esophagitis (EoE) is an allergic disorder characterized by infiltration of the oesophagus with eosinophils. We had previously reported association of the TSLP/WDR36 locus with EoE. Here we report genome-wide significant associations at four additional loci; c11orf30 and STAT6, which have been previously associated with both atopic and autoimmune diseases, and two EoE-specific loci, ANKRD27 that regulates the trafficking of melanogenic enzymes to epidermal melanocytes and CAPN14, that encodes a calpain whose expression is highly enriched in the oesophagus. The identification of five EoE loci, not only expands our aetiological understanding of the disease but may also represent new therapeutic targets to treat the most debilitating aspect of EoE, oesophageal inflammation and remodelling.

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CRRD Object Information
CRRD ID: 11100048
Created: 2016-06-14
Species: All species
Last Modified: 2016-06-14
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.