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GWAS identifies four novel eosinophilic esophagitis loci

Author

Listed:
  • Patrick M. A. Sleiman

    (The Center for Applied Genomics, The Children’s Hospital of Philadelphia
    The Perelman School of Medicine, University of Pennsylvania Philadelphia)

  • Mei-Lun Wang

    (The Perelman School of Medicine, University of Pennsylvania Philadelphia
    Hepatology, and Nutrition, The Children's Hospital of Philadelphia)

  • Antonella Cianferoni

    (The Perelman School of Medicine, University of Pennsylvania Philadelphia
    The Children’s Hospital of 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
    The Children’s Hospital of Philadelphia)

  • Hakon Hakonarson

    (The Center for Applied Genomics, The Children’s Hospital of Philadelphia
    The Perelman School of Medicine, University of Pennsylvania Philadelphia)

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.

Suggested Citation

  • 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, 2014. "GWAS identifies four novel eosinophilic esophagitis loci," Nature Communications, Nature, vol. 5(1), pages 1-5, December.
    • Handle: RePEc:nat:natcom:v:5:y:2014:i:1:d:10.1038_ncomms6593
    DOI: 10.1038/ncomms6593
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