Evidence map›Paper›PMID 29787419›Full record

ArticleEuropean journal of gastroenterology & hepatology2018

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

Barbara Hrdlickova, 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 and 13 more

Open access · greenAbstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of gastroenterology & hepatology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
3.1field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 25 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Review
  5. Article
  6. Article
  7. Association Between Celiac Disease and Cancer.International journal of molecular sciences · 2020
    Review
  8. Article
  9. Refractory Celiac Disease.Current gastroenterology reports · 2020
    Review
  10. Review
  11. Review
  12. Pathogenesis of Enteropathy-Associated T Cell Lymphoma.Current hematologic malignancy reports · 2018
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors at 12 institutions in 7 countries.

Barbara HrdlickovaDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen.
Chris J MulderDepartment of Gastroenterology, VUMC, Amsterdam, The Netherlands.
Georgia MalamutINSERM U1163, Imagine Institute and Paris Descartes University.
Bertrand MeresseINSERM U1163, Imagine Institute and Paris Descartes University.
Mathieu PlatteelDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen.
Yoichiro KamataniParis 13 University Sorbonne Paris Cité, UREN, Inserm (U557), Inra (U1125), Cnam, Bobigny, France.
Isis Ricaño-PonceDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen.
Roy L J van WanrooijDepartment of Gastroenterology, VUMC, Amsterdam, The Netherlands.
Maria M ZorroDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen.
Marc Jan BonderDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen.
Javier Gutierrez-AchuryDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen.
Christophe CellierINSERM U1163, Imagine Institute and Paris Descartes University.
Alexandra ZhernakovaDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen.
Petula NijeboerDepartment of Gastroenterology, VUMC, Amsterdam, The Netherlands.
Pilar GalanParis 13 University Sorbonne Paris Cité, UREN, Inserm (U557), Inra (U1125), Cnam, Bobigny, France.
Sebo WithoffDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen.
Mark LathropScientific director of McGill University and Génome Québec Innovation Centre, Montréal, Québec, Canada.
Gerd BoumaDepartment of Gastroenterology, VUMC, Amsterdam, The Netherlands.
Ramnik J XavierGastrointestinal Unit and Center for the Study of Inflammatory Bowel Disease, Massachusetts General Hospital and Harvard Medical School, Boston.
Bana JabriDepartment of Medicine, University of Chicago, Chicago, Illinois, USA.
Nadine C BensussanINSERM U1163, Imagine Institute and Paris Descartes University.
Cisca WijmengaDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen.
Vinod KumarDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen.
University Medical Center Groningen · NLAmsterdam UMC Location VUmc · NLInstitut des Maladies Génétiques Imagine · FRUniversity of Groningen · NLChildren Cancer Hospital · EGEuropean Hospital · ITInserm · FRMcGill University and Génome Québec Innovation Centre · CASorbonne Paris Cité · FRUniversité Sorbonne Paris Nord · FRUniversity of Chicago · USVrije Universiteit Amsterdam · NL

Funding

Innate and adaptive immunity in celiac diseaseR01DK067180 · NIDDK · UNIVERSITY OF CHICAGO · PI JABRI, BANA · 2005 to 2024
$8.5M
NIDDK NIH HHS R01 DK067180
6 · The paper itself

Abstract

backgroundApproximately 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

methodsWe 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<5×10) were replicated in 56 independent French and Dutch patients with RCDII.

resultsAfter replication, SNP rs2041570 on chromosome 7 was significantly associated with progression to RCDII (P=2.37×10, odds ratio=2.36) but not with CeD susceptibility. SNP rs2041570 risk allele A was associated with lower levels of FAM188B expression in blood and small intestinal biopsies. Stratification of RCDII biopsies based on rs2041570 genotype showed differential expression of innate immune and antibacterial genes that are expressed in Paneth cells.

conclusionWe have identified a novel SNP associated with the severe progression of CeD to RCDII. Our data suggest that genetic susceptibility to CeD might be distinct from the progression to RCDII and suggest a role for Paneth cells in RCDII progression.

Indexed as

Polymorphism, Single NucleotideBiopsyCase-Control StudiesCeliac DiseaseChromosomes, Human, Pair 7Diet, Gluten-FreeDisease ProgressionFemaleFranceGastrointestinal MicrobiomeGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansImmunity, InnateIntestine, SmallMaleMembrane ProteinsTVP23B protein, human

Identifiers

PMID29787419
PMCPMC6373482
OpenAlexW2804416439

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.