Journal
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Volume 145, Issue 1, Pages 9-15Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jaci.2019.11.013
Keywords
Eosinophilic esophagitis; genetics; single nucleotide polymorphism; heritability; genome-wide association study
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Funding
- Cincinnati Children's Hospital Medical Center (CCHMC) Center for Pediatrics Genomics (CpG) award
- Cincinnati Children's Research Foundation Endowed Scholar Award
- CCHMC CpG award
- National Institutes of Health grants [R01 DK107502, R37 AI045898, R01 AI057803, U19 AI070235, U54 AI117804, R01 AI124355]
- Campaign Urging Research for Eosinophilic Disease (CURED)
- Sunshine Charitable Foundation
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Eosinophilic esophagitis (EoE) is a chronic allergic disease associated with marked mucosal eosinophil accumulation. Multiple studies have reported a strong familial component to EoE, with the presence of EoE increasing the risk for other family members with EoE. Epidemiologic studies support an important role for environmental risk factors as modulators of genetic risk. In a small percentage of cases, including patients who have Mendelian diseases with co-occurrent EoE, rare genetic variation with large effect sizes could mediate EoE and explain multigenerational incidence in families. Common genetic risk variants mediate genetic risk for the majority of patients with EoE. Across the 31 reported independent EoE risk loci (P < 10(-5)), most of the EoE risk variants are located in between genes (36.7%) or within the introns of genes (42.4%). Although some variants do change the amino acid sequence of genes (2.2%), only 3 of the 31 EoE risk loci harbor an amino acid-changing variant. Thus most EoE risk loci are outside of the coding regions of genes, suggesting a key role for gene regulation in patients with EoE, which is consistent with most other complex diseases.
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