ArticleGenes and immunity2019
Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis.
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Article in Genes and immunity, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
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30citing papers in PubMed, 2 pooled it
4.5field-weighted citation impact, top 5% of its field
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 42 citations in OpenAlex.
- 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
- 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
- Eosinophilic esophagitis in children: Clinical perspectives and evolving therapeutic strategies.World journal of gastrointestinal endoscopy · 2026Review
- Genetic Background of Eosinophilic Esophagitis and Esophageal Atresia in Children.Digestive diseases and sciences · 2025Article
- Update on the genetics of allergic diseases.The Journal of allergy and clinical immunology · 2025Review
- Eosinophilic esophagitis.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2024Review
- Advances in omics data for eosinophilic esophagitis: moving towards multi-omics analyses.Journal of gastroenterology · 2024Review
- Common and disparate clinical presentations and mechanisms in different eosinophilic gastrointestinal diseases.The Journal of allergy and clinical immunology · 2024Review
- Minimally Invasive Approaches to Diagnose and Monitor Eosinophilic GI Diseases.Current allergy and asthma reports · 2024Review
- A Comprehensive Global Population-Based Analysis on the Coexistence of Eosinophilic Esophagitis and Inflammatory Bowel Disease.Digestive diseases and sciences · 2024Article
- Systematic identification of genotype-dependent enhancer variants in eosinophilic esophagitis.American journal of human genetics · 2024Article
- Review article: Emerging insights into the epidemiology, pathophysiology, diagnostic and therapeutic aspects of eosinophilic oesophagitis and other eosinophilic gastrointestinal diseases.Alimentary pharmacology & therapeutics · 2024Review
- Review
- Genome-wide admixture and association analysis identifies African ancestry-specific risk loci of eosinophilic esophagitis in African Americans.The Journal of allergy and clinical immunology · 2023Article
- Genetic and Molecular Contributors in Eosinophilic Esophagitis.Current allergy and asthma reports · 2023Review
- Article
- Breaking down the complex pathophysiology of eosinophilic esophagitis.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2023Review
- SOCS-JAK-STAT inhibitors and SOCS mimetics as treatment options for autoimmune uveitis, psoriasis, lupus, and autoimmune encephalitis.Frontiers in immunology · 2023Review
Corrections and comments
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Authors and funding
22 authors at 9 institutions in 1 country.
Leah C KottyanDepartment of Pediatrics, Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.ORCID http://orcid.org/0000-0003-3979-2220
Avery MaddoxDepartment of Pediatrics, Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
Julian R BraxtonDepartment of Pediatrics, Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.ORCID http://orcid.org/0000-0002-1170-5140
Emily M StuckeDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, Division of Allergy and Immunology, University of Cincinnati, Cincinnati, OH, USA.
Vince MukkadaDepartment of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
Philip E PutnamDepartment of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
J Pablo AboniaDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, Division of Allergy and Immunology, University of Cincinnati, Cincinnati, OH, USA.
Mirna ChehadePediatric Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Robert A WoodDepartment of Pediatrics, Pediatric Allergy and Immunology, Johns Hopkins University School of Medicine, Baltimore, USA.
Robbie D PesekDepartment of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Brian P VickeryDepartment of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USA.
Glenn T FurutaDepartment of Pediatrics and Digestive Health Institute, Section of Pediatric Gastroenterology, Hepatology and Nutrition, Gastrointestinal Eosinophilic Diseases Program, Children's Hospital Colorado, Aurora, CO, USA.
Peter DawsonEMMES Corporation, Rockville, MD, USA.
Hugh A SampsonDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, The Elliot and Roslyn Jaffe Food Allergy Institute, Division of Allergy and Immunology, Kravis Children's Hospital, New York, NY, USA.
Lisa J MartinDepartment of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
Jennifer A KellyArthritis and Clinical Immunology Program, Division of Genomics and Data Sciences, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Robert P KimberlyDepartments of Medicine, Schools of Medicine, The University of Alabama, Birmingham, AL, USA.
Kathy SivilsArthritis and Clinical Immunology Program, Division of Genomics and Data Sciences, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Patrick M GaffneyArthritis and Clinical Immunology Program, Division of Genomics and Data Sciences, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Kenneth KaufmanDepartment of Pediatrics, Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
John B HarleyDepartment of Pediatrics, Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA. leah.kottyan@cchmc.org.
Marc E RothenbergDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, Division of Allergy and Immunology, University of Cincinnati, Cincinnati, OH, USA. marc.rothenberg@cchmc.org.
Cincinnati Children's Hospital Medical Center · USOklahoma Medical Research Foundation · USIcahn School of Medicine at Mount Sinai · USArkansas Children's Hospital · USChildren's Hospital Colorado · USEmmes (United States) · USJohns Hopkins University · USUniversity of Alabama at Birmingham · 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 WOOD, ROBERT A · 2005 to 2016
$43.6MStem 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 SciencesUL1TR000067 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI SAMPSON, HUGH A · 2012 to 2014
$16.5MUNC 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
$10.0MUAB Center for Clinical and Translational Science (CCTS) UL1UL1TR000165 · NCATS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI KIMBERLY, ROBERT P. · 2012 to 2013
$9.6MHLA GENE COMPLEMENTATION IN PRIMARY SJOGREN'S AND LUPUSR01AI024717 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI KOTTYAN, LEAH CLAIRE, WEIRAUCH, MATTHEW TYSON · 1987 to 2025
$7.8MTissue Repository CoreP30AR070549 · NIAMS · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan · 2016 to 2026
$7.7MGene Regulation as a Foundation for Autoimmune Disease PreventionU01AI130830 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI WEIRAUCH, MATTHEW TYSON · 2017 to 2021
$7.2MInstitute for Clinical and Translational ResearchUL1TR000424 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2012 to 2012
$6.0MGenetic and Immunological Dissection of Eosinophilic EsophagitisR01AI124355 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI Marc E. Rothenberg · 2015 to 2026
$5.9MNCATS NIH HHS UL1 TR000039NCATS NIH HHS UL1 TR000067NCATS NIH HHS UL1 TR000083NCATS NIH HHS UL1 TR000165NCATS NIH HHS UL1 TR000424NCATS NIH HHS UL1 TR001082NHGRI NIH HHS U01 HG008666NIAID NIH HHS R01 AI024717NIAID NIH HHS R01 AI124355NIAID NIH HHS R37 AI045898NIAID NIH HHS U01 AI130830NIAID NIH HHS U19 AI066738NIAMS NIH HHS P30 AR070549NIDDK NIH HHS K24 DK100303NIDDK NIH HHS P30 DK078392NIDDK NIH HHS R01 DK107502
Abstract
Eosinophilic esophagitis (EoE) is a chronic inflammatory disease of the esophagus triggered by immune hypersensitivity to food. Herein, we tested whether genetic risk factors for known, non-allergic, immune-mediated diseases, particularly those involving autoimmunity, were associated with EoE risk. We used the high-density Immunochip platform, encoding 200,000 genetic variants for major auto-immune disease. Accordingly, 1214 subjects with EoE of European ancestry and 3734 population controls were genotyped and assessed using data directly generated or imputed from the previously published GWAS. We found lack of association of EoE with the genetic variants in the major histocompatibility complex (MHC) class I, II, and III genes and nearly all other loci using a highly powered study design with dense genotyping throughout the locus. Importantly, we identified an EoE risk locus at 16p13 with genome-wide significance (P
Indexed as
Genetic LociPolymorphism, GeneticChromosomes, Human, Pair 16DNA-Binding ProteinsEosinophilic EsophagitisHumansLectins, C-TypeMembrane ProteinsMonosaccharide Transport ProteinsNuclear ProteinsTrans-ActivatorsCLEC16A protein, humanDEXI protein, humanDNA-Binding ProteinsLectins, C-TypeMembrane ProteinsMHC class II transactivator proteinMonosaccharide Transport ProteinsNuclear ProteinsTrans-Activators
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