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Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis
- Source :
- Genes and immunity
- Publication Year :
- 2018
-
Abstract
- Eosinophilic esophagitis (EoE) is a chronic inflammatory disease of the esophagus triggered by immune hypersensitivity to food. Herein, we tested whether genetic risk factors for known, non-allergic, immune-mediated diseases, particularly those involving autoimmunity, were associated with EoE risk. We used the high-density Immunochip platform, encoding 200,000 genetic variants for major auto-immune disease. Accordingly, 1,214 subjects with EoE of European ancestry and 3,734 population controls were genotyped and assessed using data directly generated or imputed from the previously published GWAS. We found lack of association of EoE with the genetic variants in the major histocompatibility complex (MHC) class I, II, and III genes and nearly all other loci using a highly powered study design with dense genotyping throughout the locus. Importantly, we identified an EoE risk locus at 16p13 with genome-wide significance (Pcombined = 2.05 × 10−9, odds ratio = 0.76–0.81). This region is known to encode for the genes CLEC16A, DEXI, and CIITI, which are expressed in immune cells and esophageal epithelial cells. Suggestive EoE risk were also seen 5q23 (intergenic) and 7p15 (JAZF1). Overall, we have identified an additional EoE risk locus at 16p13 and highlight a shared and unique genetic etiology of EoE with a spectrum of immune-associated diseases.
- Subjects :
- 0301 basic medicine
Monosaccharide Transport Proteins
Immunology
Population
Genome-wide association study
Locus (genetics)
Disease
CLEC16A
Biology
Major histocompatibility complex
Article
03 medical and health sciences
0302 clinical medicine
Genetics
medicine
Humans
Lectins, C-Type
Eosinophilic esophagitis
education
Genotyping
Genetics (clinical)
2. Zero hunger
education.field_of_study
Polymorphism, Genetic
Membrane Proteins
Nuclear Proteins
Eosinophilic Esophagitis
medicine.disease
3. Good health
DNA-Binding Proteins
030104 developmental biology
Genetic Loci
biology.protein
Trans-Activators
Chromosomes, Human, Pair 16
030215 immunology
Subjects
Details
- ISSN :
- 14765470
- Volume :
- 20
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Genes and immunity
- Accession number :
- edsair.doi.dedup.....7d9b0b4e89373ebacbd9cd81b4a8abcc