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 and Hakon Hakonarson ()
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Patrick M. A. Sleiman: The Center for Applied Genomics, The Children’s Hospital of Philadelphia
Mei-Lun Wang: The Perelman School of Medicine, University of Pennsylvania Philadelphia
Antonella Cianferoni: The Perelman School of Medicine, University of Pennsylvania Philadelphia
Seema Aceves: Immunology, University of California, San Diego and Rady Children’s Hospital
Nirmala Gonsalves: Northwestern University—The Feinberg School of Medicine
Kari Nadeau: Immunology, and Rheumatology, Lucile Packard Children's Hospital, Stanford Hospital and Clinics, Stanford University School of Medicine
Albert J. Bredenoord: Academic Medical Center
Glenn T. Furuta: Section of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital Colorado, Gastrointestinal, Eosinophilic Diseases Program, University of Colorado School of Medicine
Jonathan M. Spergel: The Perelman School of Medicine, University of Pennsylvania Philadelphia
Hakon Hakonarson: The Center for Applied Genomics, The Children’s Hospital of Philadelphia

Nature Communications, 2014, vol. 5, issue 1, 1-5

Abstract: 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.

Date: 2014
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DOI: 10.1038/ncomms6593

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