Trial reportThe Journal of allergy and clinical immunology2014
Twin and family studies reveal strong environmental and weaker genetic cues explaining heritability of eosinophilic esophagitis.
Trial report in The Journal of allergy and clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 142 papers, 7 of them syntheses that pooled it.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
142 citing papers in PubMed, 7 syntheses or guidelines pooled it, 284 citations in OpenAlex.
- Pooled it
- Pooled 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
- Association Between Helicobacter pylori Exposure and Decreased Odds of Eosinophilic Esophagitis-A Systematic Review and Meta-analysis.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2019Pooled it
- Systematic review: adrenal insufficiency secondary to swallowed topical corticosteroids in eosinophilic oesophagitis.Alimentary pharmacology & therapeutics · 2018Pooled it
- The Role of Environmental Exposures in the Etiology of Eosinophilic Esophagitis: A Systematic Review.Mayo Clinic proceedings · 2015Pooled it
- Detergent-Containing Toothpaste Decreases Esophageal Mucosal Impedance and Alters Salivary Properties in Humans.Allergy · 2026Article
- Advancing the understanding of eosinophilic esophagitis: From pathogenesis to novel therapies.World journal of gastrointestinal pathophysiology · 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
- Pediatric eosinophilic esophagitis: diagnostic and therapeutic insights from a 15-year retrospective study.European journal of pediatrics · 2026Article
- Eosinophilic gastrointestinal diseases.Nature reviews. Disease primers · 2026Review
- Review
- Sexual Dimorphism in Allergic and Mast Cell-Associated Diseases.Clinical reviews in allergy & immunology · 2026Review
- Eosinophilic Esophagitis: Mechanisms of Disease and Approach to Treatment.Current allergy and asthma reports · 2026Review
- Risk of developing eosinophilic esophagitis with preexisting asthma, allergic rhinitis, atopic dermatitis, or food allergy.Allergy and asthma proceedings · 2026Article
- Eosinophilic oesophagitis: pathophysiology, diagnosis, and treatment.BMJ medicine · 2026Review
- Emerging Insights into the Inflammatory Phenotypes of Eosinophilic Esophagitis.Journal of inflammation research · 2026Review
- Non-Invasive Biomarkers for Eosinophilic Esophagitis: Latest Developments and Future Directions.Journal of clinical medicine · 2025Review
82 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 15 institutions in 2 countries.
Funding
Abstract
backgroundEosinophilic esophagitis (EoE) is a chronic antigen-driven allergic inflammatory disease, likely involving the interplay of genetic and environmental factors, yet their respective contributions to heritability are unknown.
objectiveTo quantify the risk associated with genes and environment on familial clustering of EoE.
methodsFamily history was obtained from a hospital-based cohort of 914 EoE probands (n = 2192 first-degree "Nuclear-Family" relatives) and an international registry of monozygotic and dizygotic twins/triplets (n = 63 EoE "Twins" probands). Frequencies, recurrence risk ratios (RRRs), heritability, and twin concordance were estimated. Environmental exposures were preliminarily examined.
resultsAnalysis of the Nuclear-Family-based cohort revealed that the rate of EoE, in first-degree relatives of a proband, was 1.8% (unadjusted) and 2.3% (sex-adjusted). RRRs ranged from 10 to 64, depending on the family relationship, and were higher in brothers (64.0; P = .04), fathers (42.9; P = .004), and males (50.7; P < .001) than in sisters, mothers, and females, respectively. The risk of EoE for other siblings was 2.4%. In the Nuclear-Family cohort, combined gene and common environment heritability was 72.0% ± 2.7% (P < .001). In the Twins cohort, genetic heritability was 14.5% ± 4.0% (P < .001), and common family environment contributed 81.0% ± 4% (P < .001) to phenotypic variance. Probandwise concordance in monozygotic co-twins was 57.9% ± 9.5% compared with 36.4% ± 9.3% in dizygotic co-twins (P = .11). Greater birth weight difference between twins (P = .01), breast-feeding (P = .15), and fall birth season (P = .02) were associated with twin discordance in disease status.
conclusionsEoE RRRs are increased 10- to 64-fold compared with the general population. EoE in relatives is 1.8% to 2.4%, depending on relationship and sex. Nuclear-Family heritability appeared to be high (72.0%). However, the Twins cohort analysis revealed a powerful role for common environment (81.0%) compared with additive genetic heritability (14.5%).
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Registered trials
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.