Evidence map›Paper›PMID 41865802›Full record

ArticleThe Journal of allergy and clinical immunology2026

Multitrait analysis of genome-wide association studies expands eosinophilic esophagitis genetic susceptibility and polygenic risk scores.

Michael P Trimarchi, Bahram Namjou-Khales, Netali Ben-Baruch Morgenstern, Mark Rochman, Xiaoting Chen, Garrett A Osswald, John A Besse, Molly S Shook, Julie M Caldwell, Michael Lape and 8 more

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Article in The Journal of allergy and clinical immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

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3 · Its place in the literature

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors.

Michael P TrimarchiDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Bahram Namjou-KhalesCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Netali Ben-Baruch MorgensternDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Mark RochmanDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Xiaoting ChenDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Garrett A OsswaldDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
John A BesseDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Molly S ShookDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Julie M CaldwellDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Michael LapeDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Tetsuo ShodaDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Matthew T WeirauchDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Divisions of Developmental Biology and Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Melanie A RuffnerDivision of Allergy and Immunology and Center for Pediatric Eosinophilic Disorders, Children's Hospital of Philadelphia, Philadelphia, Pa; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.
Gregory M ConstantineNational Institute of Allergy and Infectious Diseases, Bethesda, Md.
Lisa J MartinDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Leah C KottyanDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address: Leah.Kottyan@cchmc.org.
Marc E RothenbergDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address: Rothenberg@cchmc.org.
Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) Investigators

Funding

HRS Yrs29-34: Y33 SSA CoFundingU01AG009740 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Jessica Faul, KENNETH M LANGA · 1990 to 2026
$555.8M
The Impact of COVID-19 on People Living with Rare Diseases and Their FamiliesU2CTR002818 · NCATS · CINCINNATI CHILDRENS HOSP MED CTR · PI Rhonda Szczesniak · 2019 to 2026
$51.2M
TSLP, IL-9-producing mucosal mast cells, and allergic inflammationU19AI070235 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI Marc E. Rothenberg · 2006 to 2026
$31.3M
TRAINING (CAREER DEVELOPMENT) COMPONENTU54AI117804 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI Marc E. Rothenberg · 2014 to 2026
$18.5M
Research Project 3: Role of Posttranslational Protein Modifications in the Pathogenesis of Ebola Virus DiseaseP01AI150585 · NIAID · UNIVERSITY OF TEXAS MED BR GALVESTON · PI BUKREYEV, ALEXANDER, GARCIA-BLANCO, MARIANO A. · 2021 to 2025
$11.3M
HLA GENE COMPLEMENTATION IN PRIMARY SJOGREN'S AND LUPUSR01AI024717 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI KOTTYAN, LEAH CLAIRE, WEIRAUCH, MATTHEW TYSON · 1987 to 2025
$7.8M
Tissue Repository CoreP30AR070549 · NIAMS · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan · 2016 to 2026
$7.7M
Polygenic Risk Scores for Healthier African American FamiliesU01HG011172 · NHGRI · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan, LISA J MARTIN · 2020 to 2026
$7.2M
Gene Regulation as a Foundation for Autoimmune Disease PreventionU01AI130830 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI WEIRAUCH, MATTHEW TYSON · 2017 to 2021
$7.2M
BIOCHEMICAL AND GENETIC ANALYSIS OF NOTCH SIGNALINGR01GM055479 · NIGMS · WASHINGTON UNIVERSITY · PI KOPAN, RAPHAEL, WEIRAUCH, MATTHEW TYSON · 1996 to 2021
$6.4M
Genetic and Immunological Dissection of Eosinophilic EsophagitisR01AI124355 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI Marc E. Rothenberg · 2015 to 2026
$5.9M
Dynamic regulatory network models of human response to influenza virusU01AI150748 · NIAID · UNIVERSITY OF CALIFORNIA-IRVINE · PI MARAZZI, IVAN, MIRALDI, EMILY · 2020 to 2024
$5.8M
NCATS NIH HHS U2C TR002818NCI NIH HHS U01 CA155309NEI NIH HHS R01 EY016482NEI NIH HHS R01 EY016514NHGRI NIH HHS R01 HG010730NHGRI NIH HHS U01 HG011172NHGRI NIH HHS U24 HG013078NHLBI NIH HHS N01 HC025195NHLBI NIH HHS N02 HL064278NIAID NIH HHS P01 AI150585NIAID NIH HHS R01 AI024717NIAID NIH HHS R01 AI124355NIAID NIH HHS R01 AI141569NIAID NIH HHS R01 AI148276NIAID NIH HHS U01 AI130830NIAID NIH HHS U01 AI150748NIAID NIH HHS U01 AI181966NIAID NIH HHS U19 AI070235NIAID NIH HHS U54 AI117804NIAMS NIH HHS P30 AR070549NIAMS NIH HHS R01 AR073228NIA NIH HHS U01 AG009740NIDDK NIH HHS R01 DK076893NIDDK NIH HHS R01 DK107502NIGMS NIH HHS R01 GM055479NINDS NIH HHS R01 NS099068
6 · The paper itself

Abstract

backgroundEosinophilic esophagitis (EoE) is an atopic disease driven in part by genetic susceptibility, but single-trait genome-wide association study (GWAS) has identified a limited number of genome-wide significant risk loci.

objectiveWe sought to expand discovery of EoE genetic risk loci by leveraging shared genetic architecture with other atopic diseases and to develop a polygenic risk score (PRS) for EoE.

methodsWe performed a GWAS of 1,757 individuals with EoE and 14,467 population controls. We then applied multitrait analysis of GWAS (MTAG), integrating EoE with other atopic disease GWAS (UK Biobank; >450,000 subjects). Functional analyses were used to nominate candidate EoE risk genes. PRS models derived from MTAG were compared to PRS derived from the EoE-only GWAS. An interactive tool (EGIDExpress; https://egidexpress. RESEARCH: cchmc.org/GWAS/) was developed to enable dataset queries and visualization.

resultsThe EoE-only GWAS identified 11 independent risk variants across 8 loci (P < 5 × 10

conclusionLeveraging shared atopic disease genetics via MTAG substantially expands the landscape of EoE risk loci and improves EoE polygenic risk prediction, underscoring shared genetic mechanisms across atopic diseases. We further provide a public resource (EGIDExpress; https://egidexpress. RESEARCH: cchmc.org/GWAS/) to advance the field.

Indexed as

Eosinophilic EsophagitisGenetic Predisposition to DiseaseFemaleGenetic Risk ScoreGenome-Wide Association StudyHumansMaleMultifactorial InheritancePolymorphism, Single NucleotideAllergyeosinophilic esophagitisGWASmultitrait analysis of GWAS (MTAG)polygenic risk score

Identifiers

PMID41865802
PMCPMC13173691

What Socratic holds

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Registered trials

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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 Socratic graph.