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.