Open AccessA locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease
Author(s) -
Barbara Hrdličková,
Chris J. Mulder,
Georgia Malamut,
Bertrand Meresse,
Mathieu Platteel,
Yoichiro Kamatani,
Isis Ricaño-Ponce,
Roy L.J. van Wanrooij,
Maria M. Zorro,
Marc Jan Bonder,
Javier Gutiérrez-Achury,
Christophe Cellier,
Alexandra Zhernakova,
Petula Nijeboer,
Pilar Galán,
Sebo Withoff,
Mark Lathrop,
Gerd Bouma,
Ramnik J. Xavier,
Bana Jabrì,
Nadine Cerf Bensussan,
Cisca Wijmenga,
Vinod Kumar
Publication year - 2018
Publication title -
european journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.881
H-Index - 102
eISSN - 1473-5687
pISSN - 0954-691X
DOI - 10.1097/meg.0000000000001168
Subject(s) - intraepithelial lymphocyte , single nucleotide polymorphism , snp , enteropathy , medicine , disease , immunology , genotype , locus (genetics) , allele , odds ratio , genome wide association study , gastroenterology , gene , immune system , genetics , biology
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.