| Title: |
A locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease. |
| Authors: |
Hrdlickova, Barbara; Mulder Chris, J; Malamut, Georgia; Meresse, Bertrand; Platteel, Mathieu; Kamatani, Yoichiro; Ricano-Ponce, Isis; Van Wanrooij Roy L, J; Zorro Maria, M; Jan Bonder, Marc; Gutierrez-Achury, Javier; Cellier, Christophe; Zhernakova, Alexandra; Nijeboer, Petula; Galan, Pilar; Withoff, Sebo; Lathrop, Mark; Bouma, Gerd; Xavier Ramnik, J; Jabri, Bana; Bensussan Nadine, C; Wijmenga, Cisca; Kumar, Vinod |
| Contributors: |
Inserm; Université de Lille; CHU Lille; Imagine - Institut des maladies génétiques (IHU) Imagine - U1163; 498252|||Lille Inflammation Research International Center - U 995 LIRIC (OLD); Université Paris 13 UP13; Imagine - Institut des maladies génétiques IMAGINE - U1163 |
| Publication Year: |
2024 |
| Collection: |
LillOA (Lille Open Archive - Université de Lille) |
| Subject Terms: |
microbiome; enteropathy-associated T-cell lymphoma; enteropathy; genome-wide association study |
| Description: |
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 patients with RCDII, and the 15 independent top-associated single nucleotide polymorphism (SNP) variants (P |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/octet-stream |
| Language: |
English |
| Relation: |
European Journal of Gastroenterology & Hepatology; Eur. J. Gastroenterol. Hepatol.; http://hdl.handle.net/20.500.12210/4975 |
| Availability: |
https://hdl.handle.net/20.500.12210/4975 |
| Rights: |
info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.E9FD45F8 |
| Database: |
BASE |