The DOI matches its Crossref record; 53 of the 53 references it cites were found in a registry or an index.
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease
Open accessAbstract
Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder associated with allergic hypersensitivity to food. We interrogated >1.5 million genetic variants in EoE cases of European ancestry and subsequently in a multi-site cohort with local and out-of-study control subjects. In addition to replicating association of the 5q22 locus (meta-analysis P = 1.9 × 10−16), we identified an association at 2p23 spanning CAPN14 (P = 2.5 × 10−10). CAPN14 was specifically expressed in the esophagus, was dynamically upregulated as a function of disease activity and genetic haplotype and after exposure of epithelial cells to interleukin (IL)-13, and was located in an epigenetic hotspot modified by IL-13. Genes neighboring the top 208 EoE-associated sequence variants were enriched for esophageal expression, and multiple loci for allergic sensitization were associated with EoE susceptibility (4.8 × 10−2 < P < 5.1 × 10−11). We propose a model to explain the tissue-specific nature of EoE that involves the interplay of allergic sensitization with an EoE-specific, IL-13–inducible esophageal response involving CAPN14.
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Metadata
- Authors
- Kottyan, L. C., Davis, B. P., Sherrill, J. D., Liu, K., Rochman, M., Kaufman, K., Weirauch, M. T., Vaughn, S., Lazaro, S., Rupert, A. M., Kohram, M., Stucke, E. M., Kemme, K. A., Magnusen, A., He, H., Dexheimer, P., Chehade, M., Wood, R. A., Pesek, R. D., Vickery, B. P., Fleischer, D. M., Lindbad, R., Sampson, H. A., Mukkada, V. A., Putnam, P. E., Abonia, J. P., Martin, L. J., Harley, J. B., & Rothenberg, M. E.
- Venue
- Nature Genetics
- Published
- 2014-07-13
- Volume
- 46
- Issue
- 8
- Pages
- 895-900
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1993253390
- Cited by
- 302
- References
- 53
- FWCI
- 28.38
- Type
- journal article
- Language
- en
- Open access
- green
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- Kottyan, L. C., Davis, B. P., Sherrill, J. D., Liu, K., Rochman, M., Kaufman, K., Weirauch, M. T., Vaughn, S., Lazaro, S., Rupert, A. M., Kohram, M., Stucke, E. M., Kemme, K. A., Magnusen, A., He, H., Dexheimer, P., Chehade, M., Wood, R. A., Pesek, R. D., . . . Rothenberg, M. E. (2014). Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. Nature Genetics. https://doi.org/10.1038/ng.3033
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
