title: GWAS identifies four novel eosinophilic esophagitis loci.
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.
authors.affiliation: 1] The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA [2] Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania Philadelphia, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Patrick M A
authors.initials: PM
authors.lastname: Sleiman
authors.affiliation: 1] Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania Philadelphia, Philadelphia, Pennsylvania 19104, USA [2] Division of GI, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Mei-Lun
authors.initials: ML
authors.lastname: Wang
authors.affiliation: 1] Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania Philadelphia, Philadelphia, Pennsylvania 19104, USA [2] Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Antonella
authors.initials: A
authors.lastname: Cianferoni
authors.affiliation: Division of Allergy, Immunology, Department of Pediatrics and Medicine, University of California, San Diego and Rady Children's Hospital, 9500 Gilman Drive MC-0760, San Diego, California 92123, USA.
authors.forename: Seema
authors.initials: S
authors.lastname: Aceves
authors.affiliation: Division of Gastroenterology &Hepatology, Northwestern University-The Feinberg School of Medicine, Chicago, Illinois 60611, USA.
authors.forename: Nirmala
authors.initials: N
authors.lastname: Gonsalves
authors.affiliation: Division of Allergy, Immunology, and Rheumatology, Lucile Packard Children's Hospital, Stanford Hospital and Clinics, Stanford University School of Medicine, Stanford, California 94304, USA.
authors.forename: Kari
authors.initials: K
authors.lastname: Nadeau
authors.affiliation: Department of Gastroenterology and Hepatology, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
authors.forename: Albert J
authors.initials: AJ
authors.lastname: Bredenoord
authors.affiliation: Section of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Children's Hospital Colorado, Gastrointestinal, Eosinophilic Diseases Program, University of Colorado School of Medicine, Aurora, Colorado 80045, USA.
authors.forename: Glenn T
authors.initials: GT
authors.lastname: Furuta
authors.affiliation: 1] Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania Philadelphia, Philadelphia, Pennsylvania 19104, USA [2] Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Jonathan M
authors.initials: JM
authors.lastname: Spergel
authors.affiliation: 1] The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA [2] Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania Philadelphia, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Hakon
authors.initials: H
authors.lastname: Hakonarson
mesh_terms: D000328:Adult; D002154:Calpain / Q000235:genetics*; D016022:Case-Control Studies; D057765:Eosinophilic Esophagitis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D050800:STAT6 Transcription Factor / Q000235:genetics*
chemical_list: C529611:ANKRD27 protein, human; C480344:EMSY protein, human; D020662:Guanine Nucleotide Exchange Factors; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; D050800:STAT6 Transcription Factor; C494101:STAT6 protein, human; C000602625:CAPN14 protein, human; D002154:Calpain