title: Risk of Autoimmunity in EoE and Families: A Population-Based Cohort Study.
abstract: Recent genome-wide association studies have suggested possible genetic associations between eosinophilic esophagitis (EoE) and genes associated with autoimmunity. No studies to date have looked at potential genetic association of EoE with specific autoimmune diseases by evaluating such diagnoses within family members. Investigate the risk of specific autoimmune disease within EoE probands and their extended family members.
  
  
  
  The Utah Population Database offers a unique opportunity to link medical records from over 85% of Utah's population to genealogy records representing Utah. We searched for associations of specific autoimmune diseases in probands diagnosed with EoE and their extended family members (e.g., first cousins). Comparisons were made to age- and sex-matched controls and their respective families at a 5:1 ratio.
  
  
  
  Excess risk for multiple autoimmune conditions was detected in subjects with a diagnosis of EoE. Celiac, Crohn's, ulcerative colitis (UC), rheumatoid arthritis, IgA deficiency, CVID, multiple sclerosis (MS), and Hashimoto's thyroiditis were found at increased risk in first-degree relatives of EoE subjects. UC, systemic sclerosis, and MS had nominally significant associations within second-degree family members of EoE subjects; and, in reverse analysis, probands and their families with the above three conditions were at an increased risk for EoE suggesting shared genetic factors with EoE.
  
  
  
  Patients with EoE have an increased risk of multiple autoimmune diseases. Possible shared genetic etiologies were observed between EoE and UC, systemic sclerosis, and MS. Practitioners should be aware of these comorbid associations and query all EoE patients and family members for symptoms of these diseases.
authors.affiliation: Department of Gastroenterology, University of Utah, Salt Lake City, Utah, USA.
authors.forename: Kathryn
authors.initials: K
authors.lastname: Peterson
authors.affiliation: Department of Pediatric Immunology, University of Utah, Salt Lake City, Utah, USA.
authors.forename: Rafael
authors.initials: R
authors.lastname: Firszt
authors.affiliation: Department of Gastroenterology, University of Utah, Salt Lake City, Utah, USA.
authors.forename: John
authors.initials: J
authors.lastname: Fang
authors.affiliation: Pedigree and Population Resource (Utah Population Database), University of Utah, Salt Lake City, Utah, USA.
authors.forename: Jathine
authors.initials: J
authors.lastname: Wong
authors.affiliation: Pedigree and Population Resource (Utah Population Database), University of Utah, Salt Lake City, Utah, USA.
authors.forename: Ken R
authors.initials: KR
authors.lastname: Smith
authors.affiliation: Department of Internal Medicine, Division of Genetic Epidemiology, University of Utah, Salt Lake City, Utah, USA.
authors.forename: Kristina A
authors.initials: KA
authors.lastname: Brady
mesh_terms: D000293:Adolescent; D000328:Adult; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000276:immunology; D015551:Autoimmunity / Q000235:genetics*; D002675:Child, Preschool; D015897:Comorbidity; D057765:Eosinophilic Esophagitis / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000276:immunology; D005190:Family; D055106:Genome-Wide Association Study; D006801:Humans; D008501:Medical Records, Problem-Oriented / Q000706:statistics & numerical data; D010375:Pedigree; D011897:Random Allocation; D012107:Research Design; D012307:Risk Factors; D014589:Utah / Q000453:epidemiology