ArticleNature genetics2014
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
2 registry-linked trialsOpen access · greenAbstract read
In one paragraph
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 183 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
183citing papers in PubMed, 4 pooled it
27.9field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Eosinophilic Esophagitis (EoE) Databank (CoFAR 5)
Prospective Registry of EoSinophilic esOphagitis (PRESO)
Who cites it
183 citing papers in PubMed, 4 syntheses or guidelines pooled it, 289 citations in OpenAlex.
- Trans-ancestry, Bayesian meta-analysis discovers 20 novel risk loci for inflammatory bowel disease in an African American, East Asian and European cohort.Human molecular genetics · 2023Pooled it
- A genome-wide association meta-analysis identifies new eosinophilic esophagitis loci.The Journal of allergy and clinical immunology · 2022Pooled it
- Replication and meta-analyses nominate numerous eosinophilic esophagitis risk genes.The Journal of allergy and clinical immunology · 2021Pooled it
- Guideline
- Gene expression and clinical outcomes after dietary treatment for eosinophilic esophagitis: a prospective study.Neurogastroenterology and motility · 2022Trial
- Trial
- Twin and family studies reveal strong environmental and weaker genetic cues explaining heritability of eosinophilic esophagitis.The Journal of allergy and clinical immunology · 2014Trial
- Dietary Approaches in Eosinophilic Esophagitis.Nutrients · 2026Review
- Genetic variants associated with clinical characteristics and atopies in eosinophilic esophagitis.The journal of allergy and clinical immunology. Global · 2026Article
- Multitrait analysis of genome-wide association studies expands eosinophilic esophagitis genetic susceptibility and polygenic risk scores.The Journal of allergy and clinical immunology · 2026Article
- Eosinophilic gastrointestinal diseases.Nature reviews. Disease primers · 2026Review
- Review
- IL-13 and calpain-14 suppress the expression of SPINK7 by regulating OVOL1 in eosinophilic esophagitis.JCI insight · 2026Article
- Eosinophilic Esophagitis: Mechanisms of Disease and Approach to Treatment.Current allergy and asthma reports · 2026Review
- Eosinophilic esophagitis in children: Clinical perspectives and evolving therapeutic strategies.World journal of gastrointestinal endoscopy · 2026Review
- Immune functions of the esophagus.The Journal of allergy and clinical immunology · 2026Review
- The Immune Architecture of Eosinophilic Esophagitis: Mechanisms, Therapeutic Targets, and Precision Management.ImmunoTargets and therapy · 2026Review
- Pediatric eosinophilic esophagitis among children attending a tertiary hospital in Nairobi, Kenya: a case series.Frontiers in allergy · 2026Article
- Compartment-based biomarker integration for clinical monitoring in eosinophilic esophagitis.Therapeutic advances in gastroenterology · 2026Review
- Overlapping type 2, barrier, and remodeling endotypes shape clinical expression in eosinophilic esophagitis.Frontiers in immunology · 2026Review
123 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
29 authors at 8 institutions in 1 country.
Leah C Kottyan1] Center for Autoimmune Genomics and Etiology, Department of Pediatrics, Division of Rheumatology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA. [2] US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA. [3] Department of Pediatrics, Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA. [4].
Benjamin P Davis1] Department of Pediatrics, Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA. [2].
Joseph D SherrillDepartment of Pediatrics, Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Kan LiuDepartment of Pediatrics, Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Mark RochmanDepartment of Pediatrics, Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Kenneth Kaufman1] Center for Autoimmune Genomics and Etiology, Department of Pediatrics, Division of Rheumatology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA. [2] US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA.
Matthew T Weirauch1] Center for Autoimmune Genomics and Etiology, Department of Pediatrics, Division of Rheumatology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA. [2] Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Samuel VaughnCenter for Autoimmune Genomics and Etiology, Department of Pediatrics, Division of Rheumatology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Sara Lazaro1] Center for Autoimmune Genomics and Etiology, Department of Pediatrics, Division of Rheumatology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA. [2] US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA.
Andrew M RupertDivision of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Mojtaba KohramDivision of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Emily M StuckeDepartment of Pediatrics, Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Katherine A KemmeDepartment of Pediatrics, Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Albert Magnusen1] Center for Autoimmune Genomics and Etiology, Department of Pediatrics, Division of Rheumatology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA. [2] US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA.
Hua HeDepartment of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Phillip DexheimerDivision of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Mirna ChehadeDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Robert A WoodDepartment of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Robbie D PesekDepartment of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, Arkansas, USA.
Brian P VickeryDepartment of Pediatrics, University of North Carolina, Chapel Hill, North Carolina, USA.
David M FleischerDepartment of Pediatrics, National Jewish Health, Denver, Colorado, USA.
Robert LindbadThe EMMES Corporation, Rockville, Maryland, USA.
Hugh A SampsonDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Vincent A MukkadaDepartment of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Phil E PutnamDepartment of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
J Pablo AboniaDepartment of Pediatrics, Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Lisa J MartinDepartment of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
John B Harley1] Center for Autoimmune Genomics and Etiology, Department of Pediatrics, Division of Rheumatology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA. [2] US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA. [3].
Marc E Rothenberg1] Department of Pediatrics, Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA. [2].
Cincinnati Children's Hospital Medical Center · USUniversity of Cincinnati · USIcahn School of Medicine at Mount Sinai · USArkansas Children's Hospital · USEmmes (United States) · USJohns Hopkins Medicine · USUniversity of Colorado Denver · USUniversity of North Carolina at Chapel Hill · US
Funding
Colorado Clinical and Translational Sciences InstituteUL1TR001082 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2013 to 2017
$48.0MMechanistic CoreU19AI066738 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI SAMPSON, HUGH A · 2005 to 2016
$43.6MLCenter for Clinical and Translational Science and TrainingUL1TR001425 · NCATS · UNIVERSITY OF CINCINNATI · PI MEINZEN-DERR, JAREEN, STRAWN, JEFFREY ROBERT · 2015 to 2024
$37.5MStem Cell/Organoid and Genome Editing CoreP30DK078392 · NIDDK · CINCINNATI CHILDRENS HOSP MED CTR · PI Alexander Miethke · 2007 to 2026
$24.4MMOUNT SINAI INSTITUTES FOR CLINICAL AND TRANSLATIONAL SCIENCESUL1RR029887 · NCRR · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI SAMPSON, HUGH A · 2009 to 2011
$19.2MMount Sinai Institutes for Clinical and Translational SciencesUL1TR000067 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI SAMPSON, HUGH A · 2012 to 2014
$16.5MFood Allergy Research Consortium and Statistical CenterU01AI066560 · NIAID · THE EMMES COMPANY, LLC · PI DAWSON, PETER RUSSELL, LINDBLAD, ROBERT · 2005 to 2016
$12.8MProgram Project in the Genetics of SLEP01AR049084 · NIAMS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI KIMBERLY, ROBERT P. · 2002 to 2012
$12.7MUNC Clinical and Translational Science AwardUL1TR000083 · NCATS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI RUNGE, MARSCHALL S. · 2012 to 2013
$11.6MArkansas Center for Clinical and Translational ResearchUL1TR000039 · NCATS · UNIV OF ARKANSAS FOR MED SCIS · PI BECK, CORNELIA MARIE, JAMES, LAURA P · 2012 to 2014
$10.0MSequencingP01AI083194 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI KIMBERLY, ROBERT P. · 2009 to 2013
$9.6MROLE OF ANGPTL4, AN ANGIOGENIC MEDIATOR, IN ARTHRITISP30AR047363 · NIAMS · CINCINNATI CHILDRENS HOSP MED CTR · PI FLICK, MATTHEW J. · 2001 to 2015
$9.2MBLRD VA I01 BX001834NCATS NIH HHS UL1 TR-000039NCATS NIH HHS UL1 TR-000067NCATS NIH HHS UL1 TR000067NCATS NIH HHS UL1 TR-000083NCATS NIH HHS UL1 TR-000424NCATS NIH HHS UL1 TR000424NCATS NIH HHS UL1 TR001082NCATS NIH HHS UL1 TR001425NCRR NIH HHS UL1 RR029887NHGRI NIH HHS U01 HG006828NHGRI NIH HHS U01 HG006828-S1NHGRI NIH HHS U01 HG006828-S2NHLBI NIH HHS T32 HL007752NHLBI NIH HHS T32 HL7752-19NIAID NIH HHS K23 AI099083NIAID NIH HHS P01 AI083194NIAID NIH HHS R37 AI024717NIAID NIH HHS T32 AI060515NIAID NIH HHS U01 AI066560NIAID NIH HHS U19 AI066738NIAMS NIH HHS P01 AR049084NIAMS NIH HHS P30 AR047363NIDDK NIH HHS P30 DK078392NIGMS NIH HHS T32 GM063483
Abstract
Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder associated with allergic hypersensitivity to food. We interrogated >1.5 million genetic variants in EoE cases of European ancestry and subsequently in a multi-site cohort with local and out-of-study control subjects. In addition to replicating association of the 5q22 locus (meta-analysis P=1.9×10(-16)), we identified an association at 2p23 spanning CAPN14 (P=2.5×10(-10)). CAPN14 was specifically expressed in the esophagus, was dynamically upregulated as a function of disease activity and genetic haplotype and after exposure of epithelial cells to interleukin (IL)-13, and was located in an epigenetic hotspot modified by IL-13. Genes neighboring the top 208 EoE-associated sequence variants were enriched for esophageal expression, and multiple loci for allergic sensitization were associated with EoE susceptibility (4.8×10(-2)<P<5.1×10(-11)). We propose a model to explain the tissue-specific nature of EoE that involves the interplay of allergic sensitization with an EoE-specific, IL-13-inducible esophageal response involving CAPN14.
Indexed as
AdolescentAdultCalpainChildChild, PreschoolEosinophilic EsophagitisEpithelial CellsEsophagusFemaleGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenotypeHaplotypesHumansInterleukin-13CalpainCAPNS1 protein, humanInterleukin-13
Identifiers
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Read underepoch 390
Registered trials
NCT01323803ClinicalTrials.gov
NCT06443346ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.