Risk of Autoimmunity in EoE and Families: A... : Official journal of the American College of Gastroenterology | ACG (original) (raw)

ORIGINAL CONTRIBUTIONS: ESOPHAGUS

Risk of Autoimmunity in EoE and Families: A Population-Based Cohort Study

Peterson, Kathryn MD1; Firszt, Rafael MD2; Fang, John MD1; Wong, Jathine BSc3; Smith, Ken R PhD3; Brady, Kristina A PhD4

1Department of Gastroenterology, University of Utah, Salt Lake City, Utah, USA

2Department of Pediatric Immunology, University of Utah, Salt Lake City, Utah, USA

3Pedigree and Population Resource (Utah Population Database), University of Utah, Salt Lake City, Utah, USA

4Department of Internal Medicine, Division of Genetic Epidemiology, University of Utah, Salt Lake City, Utah, USA

Correspondence: Kathryn Peterson, MD, MSc, Division of Gastroenterology, University of Utah, 30N 1900 E, Room 4R118, Salt Lake City, Utah 84132, USA. E-mail: [email protected]

Received 16 November 2015; accepted 04 April 2016

Guarantor of the article: Kathryn Peterson, MD.

Specific author contributions: Planning and conducting the study, collecting and interpreting data, and drafting the manuscript: Kathryn Peterson; planning the study and drafting the manuscript: Rafael Firszt; drafting the manuscript: John Fang; conducting the study, collecting and interpreting data, and drafting the manuscript: Jathine Wong; planning and conducting the study, collecting and interpreting data, and drafting the manuscript: Ken R. Smith and Kristina A. Brady.

Financial support: None.

Potential competing interests: None.

Abstract

Objectives:

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.

Methods:

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.

Results:

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.

Conclusions:

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.