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Genetic, molecular etiology of eosinophilic esophagitis identified

July 17, 2014
1 min read

Genetic contributors to the eosinophilic esophagitis disease process are linked to the CAPN14 gene that interacts with molecular allergic processes in esophageal epithelial tissue, according to recent study data.

“We have identified the genetic basis for EoE [eosinophilic esophagitis], and in the process we uncovered part of the answer to a long-standing question in the allergy field: why patients develop certain manifestations of allergic disease, in this case the involvement of the esophagus,” Marc E. Rothenberg, MD, director of the Center for Eosinophilic Disorders at Cincinnati Children’s Hospital Medical Center, told Healio.com/Gastroenterology.

Marc E. Rothenberg, MD

Marc E. Rothenberg

“We found that the genetic susceptibility is concentrated on genes expressed in the esophagus. A great deal of the discovery is focused on a gene called calpain-14 (CAPN14) which is specifically expressed in the esophagus and regulated by the adaptive immune system by an immune hormone called Interleukin (IL)-13.”

Rothenberg and colleagues conducted a genome-wide association study of single nucleotide polymorphisms (SNPs) from more than 1.5 million genetic markers from 736 EoE patients and 9,246 controls. The SNPs most highly associated with increased risk for EoE were at the 2p23 locus spanning CAPN14 (best SNP rs77569859; OR=1.98).

Analysis of 130 different body tissues showed that CAPN14 expression was primarily confined to the esophageal epithelium, particularly in patients with active EoE compared with inactive EoE and control groups (both P<.0001). CAPN14 was found to be upregulated in epithelial cells exposed to IL-13, identified as a contributor to the EoE allergic process in previous studies, compared with controls (P=.034).

“The findings open up ways to develop a screening test for EoE as well as new therapeutic strategies focused on modifying CAPN14 expression and/or activity,” Rothenberg said.

Disclosure: See the study for a full list of relevant financial disclosures.

Sources/Disclosures

Source:

Kottyan LC. Nature Genetics. 2014;doi:10.1038/ng.3033.

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