ArticleAmerican journal of human genetics2024
Systematic identification of genotype-dependent enhancer variants in eosinophilic esophagitis.
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Article in American journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
7.4field-weighted citation impact, top 2% of its field
What it found
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Linking Iris Cis-Regulatory Variants to Primary Angle-Closure Glaucoma Via Clinical Imaging and Multiomics.Investigative ophthalmology & visual science · 2024Pooled it
- Genetic variants associated with clinical characteristics and atopies in eosinophilic esophagitis.The journal of allergy and clinical immunology. Global · 2026Article
- Post-genome-wide association study variant-to-function challenges in asthma research.The Journal of allergy and clinical immunology · 2026Review
- Multitrait analysis of genome-wide association studies expands eosinophilic esophagitis genetic susceptibility and polygenic risk scores.The Journal of allergy and clinical immunology · 2026Article
- Global Evaluation of Congenital Heart Disease-Associated Non-Coding Variants.Research square · 2026Article
- Massively parallel analysis of genotype-dependent enhancer activity among atopic dermatitis genetic risk variants.The Journal of allergy and clinical immunology · 2025Article
- Genome-wide discovery of multiple sclerosis genetic risk variant allelic regulatory activity.G3 (Bethesda, Md.) · 2025Article
- Update on the genetics of allergic diseases.The Journal of allergy and clinical immunology · 2025Review
- Eosinophilic Esophagitis: Prevalence, Diagnosis, and Treatment in Childhood and Adulthood.Deutsches Arzteblatt international · 2025Review
- Systematic identification of pathogenic variants of non-small cell lung cancer in the promoters of DNA-damage repair genes.EBioMedicine · 2024Article
- Advances in omics data for eosinophilic esophagitis: moving towards multi-omics analyses.Journal of gastroenterology · 2024Review
- Advances and ongoing challenges in eosinophilic gastrointestinal disorders presented at the CEGIR/TIGERs Symposium at the 2024 American Academy of Allergy, Asthma & Immunology meeting.The Journal of allergy and clinical immunology · 2024Review
- Review
Corrections and comments
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Authors and funding
15 authors at 1 institution in 1 country.
Molly S ShookCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Xiaoming LuCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Xiaoting ChenCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Sreeja ParameswaranCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Lee EdsallCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Michael P TrimarchiCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Kevin ErnstCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Marissa GranittoCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Carmy ForneyCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Omer A DonmezCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Arame A DioufCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Andrew VonHandorfCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Marc E RothenbergDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Matthew T WeirauchCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Electronic address: matthew.weirauch@cchmc.org.
Leah C KottyanCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Electronic address: leah.kottyan@cchmc.org.
Cincinnati Children's Hospital Medical Center · US
Funding
TSLP, IL-9-producing mucosal mast cells, and allergic inflammationU19AI070235 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI Marc E. Rothenberg · 2006 to 2026
$31.3MStem Cell/Organoid and Genome Editing CoreP30DK078392 · NIDDK · CINCINNATI CHILDRENS HOSP MED CTR · PI Alexander Miethke · 2007 to 2026
$24.4MResearch Project 3: Role of Posttranslational Protein Modifications in the Pathogenesis of Ebola Virus DiseaseP01AI150585 · NIAID · UNIVERSITY OF TEXAS MED BR GALVESTON · PI BUKREYEV, ALEXANDER · 2021 to 2025
$11.3MHLA 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 Grant Sanford Schulert · 2016 to 2026
$7.7MPolygenic Risk Scores for Healthier African American FamiliesU01HG011172 · NHGRI · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan, LISA J MARTIN · 2020 to 2026
$7.2MGene Regulation as a Foundation for Autoimmune Disease PreventionU01AI130830 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI WEIRAUCH, MATTHEW TYSON · 2017 to 2021
$7.2MBIOCHEMICAL AND GENETIC ANALYSIS OF NOTCH SIGNALINGR01GM055479 · NIGMS · WASHINGTON UNIVERSITY · PI KOPAN, RAPHAEL, WEIRAUCH, MATTHEW TYSON · 1996 to 2021
$6.4MGenetic and Immunological Dissection of Eosinophilic EsophagitisR01AI124355 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI Marc E. Rothenberg · 2015 to 2026
$5.9MDynamic regulatory network models of human response to influenza virusU01AI150748 · NIAID · UNIVERSITY OF CALIFORNIA-IRVINE · PI MARAZZI, IVAN, MIRALDI, EMILY · 2020 to 2024
$5.8MREGULATION OF GASTROINTESTINAL EOSINOPHILSR01AI045898 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI ROTHENBERG, MARC E. · 1999 to 2024
$4.5MBinding of Epstein Barr Virus EBNA2 Unifies Multiple Sclerosis Genetic MechanismsR01NS099068 · NINDS · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan, Matthew Tyson Weirauch · 2017 to 2026
$4.2MNHGRI NIH HHS R01 HG010730NHGRI NIH HHS U01 HG011172NIAID NIH HHS P01 AI150585NIAID NIH HHS R01 AI024717NIAID NIH HHS R01 AI045898NIAID NIH HHS R01 AI124355NIAID NIH HHS R01 AI141569NIAID NIH HHS R01 AI148276NIAID NIH HHS U01 AI130830NIAID NIH HHS U01 AI150748NIAID NIH HHS U19 AI070235NIAMS NIH HHS P30 AR070549NIAMS NIH HHS R01 AR073228NIDA NIH HHS R01 DA024355NIDDK NIH HHS P30 DK078392NIDDK NIH HHS R01 DK107502NIGMS NIH HHS R01 GM055479NINDS NIH HHS R01 NS099068
Abstract
Eosinophilic esophagitis (EoE) is a rare atopic disorder associated with esophageal dysfunction, including difficulty swallowing, food impaction, and inflammation, that develops in a small subset of people with food allergies. Genome-wide association studies (GWASs) have identified 9 independent EoE risk loci reaching genome-wide significance (p < 5 × 10
Indexed as
EnteritisEosinophiliaEosinophilic EsophagitisGastritisGenome-Wide Association StudyGenotypeHumansQuantitative Trait LociEoEeosinophilic esophagitisgenotype-dependent enhancer activitymassively parrallel reporter assayMPRA
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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.