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GWAS identifies four novel eosinophilic esophagitis loci NATURE COMMUNICATIONS Sleiman, P. M., Wang, M., Cianferoni, A., Aceves, S., Gonsalves, N., Nadeau, K., Bredenoord, A. J., Furuta, G. T., Spergel, J. M., Hakonarson, H. 2014; 5

Abstract

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.

View details for DOI 10.1038/ncomms6593

View details for Web of Science ID 000346082000003

View details for PubMedID 25407941

View details for PubMedCentralID PMC4238044