The role of genetic factors in eosinophilic esophagitis

The pathophysiology of EoE remains partly unexplained. So far, only a few small
genetic studies have been performed aiming to identify loci associated with
EoE.9-13 These studies have shown associations with genes involved in the
recruitment of eosinophils (CCL26), remodeling/fibrosis (TGFB1), atopy (TSLP)
and epithelial barrier integrity (FLG) in small percentages of EoE
patients.10-13 No replication studies have yet been performed to confirm these
associations. No pathological mutations have been described in EoE patients.
Identification of genes associated with EoE would extent our knowledge about
the pathophysiology of EoE and could possibly contribute to the development of
clinically used molecular analyses to predict EoE diagnosis and/or prognosis.

Primary:
* To investigate associations between genomic variation and occurrence of
eosinophilic esophagitis.

Secondary:
* To systematically collect DNA samples and biopsy specimens for future genetic
analysis.
* We aim to collect clinical data on all EoE patients participating in this
study.

Prospective, observational study.

The risks associated with participation are negligible. Blood withdrawal is
routinely performed, with rarely any serious complications. Possible
complications include bleeding/hematoma, thrombophlebitis and infection.
Esophageal biopsies are taken regularly during upper endoscopy. A rare but
potentially severe risk of a biopsy is a perforation. In most cases this
perforation can be treated expectatively or endoscopically. In a minority of
cases, surgery has to be performed to close the perforation. Another risk of an
esophageal biopsy is bleeding, which can be treated endoscopically.