GWAS identifies four novel eosinophilic esophagitis loci

Patrick M.A. Sleiman*, Mei Lun Wang, Antonella Cianferoni, Seema Aceves, Nirmala Gonsalves, Kari Nadeau, Albert J. Bredenoord, Glenn T. Furuta, Jonathan M. Spergel, Hakon Hakonarson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

171 Scopus citations


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.

Original languageEnglish (US)
Article number5593
JournalNature communications
StatePublished - 2014

ASJC Scopus subject areas

  • General Physics and Astronomy
  • General Chemistry
  • General Biochemistry, Genetics and Molecular Biology


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