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

doi:https://doi.org/10.1038/ncomms6593

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

Research output: Contribution to journal › Article › Academic › peer-review

172 Citations (Scopus)

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

Original language	English
Pages (from-to)	5593
Journal	Nature communications
Volume	5
DOIs	https://doi.org/10.1038/ncomms6593
Publication status	Published - 2014

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https://doi.org/10.1038/ncomms6593

Cite this

@article{8576698914d645be87dd5bc458a6b7ba,

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",

author = "Sleiman, {Patrick M. A.} and Mei-Lun Wang and Antonella Cianferoni and Seema Aceves and Nirmala Gonsalves and Kari Nadeau and Bredenoord, {Albert J.} and Furuta, {Glenn T.} and Spergel, {Jonathan M.} and Hakon Hakonarson",

year = "2014",

doi = "https://doi.org/10.1038/ncomms6593",

language = "English",

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journal = "Nature communications",

issn = "2041-1723",

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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

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

U2 - https://doi.org/10.1038/ncomms6593

DO - https://doi.org/10.1038/ncomms6593

M3 - Article

C2 - 25407941

SN - 2041-1723

VL - 5

SP - 5593

JO - Nature communications

JF - Nature communications

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