TY - JOUR
T1 - GWAS identifies four novel eosinophilic esophagitis loci
AU - Sleiman, Patrick M.A.
AU - Wang, Mei Lun
AU - Cianferoni, Antonella
AU - Aceves, Seema
AU - Gonsalves, Nirmala
AU - Nadeau, Kari
AU - Bredenoord, Albert J.
AU - Furuta, Glenn T.
AU - Spergel, Jonathan M.
AU - Hakonarson, Hakon
N1 - Funding Information:
We thank all the participants of this study. We also thank Christina Gussfason, Kathryn Ruymann, Alain Benitez, Prasanna Modayur Chandramouleeswaran and Rosetta Chia-vacci in helping with the collection of samples; Chris Liacouras, Michele Shuker, Terri Brown-Whitehorn, Ritu Verma and Laura Gober for identification of patients for the study. Genotyping was funded by an Institute Development Fund to The Center for Applied Genomics, Food Phight Fund for Eosinophilic Esophagitis and Adele S. and Daniel S. Kubert Estate’s gift to the Center for Applied Genomics. Additional funding was provided by a U01 award from the National Institute of Health (HG006830-02). J.M.S. was supported by an award from the US Department of Defense (A-16809.2) and the Stuart Starr Chair of Pediatrics. G.T.F. was supported by a grant from National Institutes of Health (K24DK100303). S.A. was supported by an R01 award from the National Institute of Health (AI 092135). ML.W. was supported by an R01 award from the National Institute of Health (DK087789) and by an Abbott Nutrition award (US1013).
Publisher Copyright:
© 2014 Macmillan Publishers Limited. All rights reserved.
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
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U2 - 10.1038/ncomms6593
DO - 10.1038/ncomms6593
M3 - Article
C2 - 25407941
AN - SCOPUS:84923275279
SN - 2041-1723
VL - 5
JO - Nature Communications
JF - Nature Communications
M1 - 5593
ER -