A locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease.

ABSTRACT:

Background

Approximately 5% of patients with celiac disease (CeD) do not respond to a gluten-free diet and progress to refractory celiac disease (RCD), a severe progression that is characterized by infiltration of intraepithelial T lymphocytes. Patients with RCD type II (RCDII) show clonal expansions of intraepithelial T lymphocytes that result in a poor prognosis and a high mortality rate through development of aggressive enteropathy-associated T-cell lymphoma. It is not known whether genetic variations play a role in severe progression of CeD to RCDII.

Patients and methods

We performed the first genome-wide association study to identify the causal genes for RCDII and the molecular pathways perturbed in RCDII. The genome-wide association study was performed in 38 Dutch pati

SUBMITTER: Hrdlickova B 

PROVIDER: S-EPMC6373482 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature