Population-Based Study Suggests Strong Genetic Association Between Eosinophilic Esophagitis and Asthma
Sunday, March 6, 2016
South Exhibit Hall H (Convention Center)
Hannah Duffey, MD, Kathryn Peterson, MD, Rafael Firszt, M.D., M.B.A.
Rationale: Significant similarities exist between the pathogenesis of eosinophilic esophagitis (EoE) and atopic diseases. Studies have shown an increase in allergic disorders in those with EoE and in their first-degree relatives (FDR) but not distant relatives. Excess familial clustering of a disease in distant relatives would suggest a genetic contribution.  

Methods: Utilizing the Utah Population Database (UPDB), we compared EoE patients (n=4009), their FDR, second-degree relatives (SDR), and third-degree relatives (TDR), and their spouses against matched controls (n>100,000) to evaluate possible links between EoE and atopic diseases. The UPDB links genealogy information for the state of Utah to inpatient and outpatient electronic health records. Atopic disease was identified using ICD-9 coding and defined as presence of anaphylaxis, atopic dermatitis (AD), asthma, allergic conjunctivitis (AC), and/or allergic rhinitis (AR). Cox logistic regression was used for analysis. 

Results: EoE probands, as well as their FDR, SDR and TDR had increased risk of asthma (OR 3.95 95% CI (3.62-4.31); p<2e-16, OR 1.49 95% CI (1.42-1.57); p<2e-16, OR 1.13 95% CI (1.09-1.18); p = 3.28e-09, OR 1.08 95% CI (1.04-1.12); p =0.00026, respectively).  In addition, other select atopic diseases, specifically anaphylaxis, AC, AR and AD were also increased. Spouses and sibling-spouses of EoE probands did not show an association.   

Conclusions: In this novel Utah population-based study, we observed evidence of significant familial clustering of asthma and atopic diseases in distant relatives of EoE probands, suggesting a strong genetic component. Studies of high-risk families with an excess of asthma and atopic diseases in EoE probands may facilitate identification of disease-causing genes.