Evidence map›Paper›PMID 31591516›Full record

ArticleEuropean journal of human genetics : EJHG2020

Immunochip meta-analysis in European and Argentinian populations identifies two novel genetic loci associated with celiac disease.

Isis Ricaño-Ponce, Javier Gutierrez-Achury, Ana Florencia Costa, Patrick Deelen, Alexander Kurilshikov, Maria Magdalena Zorro, Mathieu Platteel, Adriaan van der Graaf, Consortium for the study of genetic associations of celiac disease in Latin-America, Serena Sanna and 9 more

Registry-linked trialOpen access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04788797 (Effect of the Endopeptidase AN-PEP on Gluten Exposure in Real Life in Celiac Disease Patients Treated With a Long-term Gluten-free Diet. Exploratory, Interventional, Prospective, Controlled and Double Blind Study), which is not on this map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
2.8field-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.

NCT04788797 phase4completednot on this mapstarted 2021, after this paper: background citation

Effect of the Endopeptidase AN-PEP on Gluten Exposure in Real Life in Celiac Disease Patients Treated With a Long-term Gluten-free Diet. Exploratory, Interventional, Prospective, Controlled and Double Blind Study

TypeinterventionalSponsorDr. C. Bonorino Udaondo Gastroenterology HospitalRan2021 to 2022Enrolled40ConditionsCeliac DiseaseArmsProlyl Endopeptidase, Placebo
3 · Its place in the literature

Who cites it

17 citing papers in PubMed, 34 citations in OpenAlex.

  1. Article
  2. Article
  3. Wheat-Related Gastrointestinal Diseases: Narrative Review.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2025
    Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. Expression of MicroRNAs in Adults with Celiac Disease: A Narrative Review.International journal of molecular sciences · 2024
    Review
  9. Celiac Disease, Gluten Sensitivity, and Diet Management.Current gastroenterology reports · 2024
    Review
  10. Article
  11. Observational
  12. Article
  13. Article
  14. Article
  15. Article
  16. Molecular Biomarkers for Celiac Disease: Past, Present and Future.International journal of molecular sciences · 2020
    Review
  17. Article
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

19 authors at 3 institutions in 4 countries.

Isis Ricaño-PonceDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9700RB, Groningen, the Netherlands.
Javier Gutierrez-Achury *Department of Genetics, University Medical Center Groningen, University of Groningen, 9700RB, Groningen, the Netherlands.
Ana Florencia Costa *Small Bowel Section, Department of Medicine, Dr. C. Bonorino Udaondo Gastroenterology Hospital, Buenos Aires, Argentina.
Patrick Deelen *Department of Genetics, University Medical Center Groningen, University of Groningen, 9700RB, Groningen, the Netherlands.
Alexander KurilshikovDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9700RB, Groningen, the Netherlands.ORCID http://orcid.org/0000-0003-2541-5627
Maria Magdalena ZorroDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9700RB, Groningen, the Netherlands.
Mathieu PlatteelDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9700RB, Groningen, the Netherlands.
Adriaan van der GraafDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9700RB, Groningen, the Netherlands.ORCID http://orcid.org/0000-0002-8898-8484
Consortium for the study of genetic associations of celiac disease in Latin-America
Serena SannaDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9700RB, Groningen, the Netherlands.
Oscar DaffraGastroenterology Service, OSEP Mendoza, Mendoza, Argentina.
Alexandra ZhernakovaDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9700RB, Groningen, the Netherlands.
Jingyuan FuDepartment of Pediatrics, University Medical Center Groningen, University of Groningen, 9700RB, Groningen, the Netherlands.ORCID http://orcid.org/0000-0001-5578-1236
Gosia TrynkaWellcome Sanger Institute, Hinxton, Cambridgeshire, CB10 1SA, UK.ORCID http://orcid.org/0000-0002-6955-9529
Edgardo SmecuolSmall Bowel Section, Department of Medicine, Dr. C. Bonorino Udaondo Gastroenterology Hospital, Buenos Aires, Argentina.
Sonia Isabel NiveloniSmall Bowel Section, Department of Medicine, Dr. C. Bonorino Udaondo Gastroenterology Hospital, Buenos Aires, Argentina.
Julio Cesar Bai *Small Bowel Section, Department of Medicine, Dr. C. Bonorino Udaondo Gastroenterology Hospital, Buenos Aires, Argentina.
Vinod Kumar *Department of Genetics, University Medical Center Groningen, University of Groningen, 9700RB, Groningen, the Netherlands.
Cisca Wijmenga *Department of Genetics, University Medical Center Groningen, University of Groningen, 9700RB, Groningen, the Netherlands. c.wijmenga@umcg.nl.ORCID http://orcid.org/0000-0002-5635-1614
University Medical Center Groningen · NLUniversity of Mendoza · ARWellcome Sanger Institute · GB

Funding

Wellcome TrustWellcome Trust WT206194
6 · The paper itself

Abstract

Celiac disease (CeD) is a common immune-mediated disease of the small intestine that is triggered by exposure to dietary gluten. While the HLA locus plays a major role in disease susceptibility, 39 non-HLA loci were also identified in a study of 24,269 individuals. We now build on this earlier study by adding 4125 additional Caucasian samples including an Argentinian cohort. In doing so, we not only confirm the previous associations, we also identify two novel independent genome-wide significant associations at loci: 12p13.31 and 22q13.1. By applying a genomics approach and differential expression analysis in CeD intestinal biopsies, we prioritize potential causal genes at these novel loci, including LTBR, CYTH4, and RAC2. Nineteen prioritized causal genes are overlapping known drug targets. Pathway enrichment analysis and expression of these genes in CeD biopsies suggest that they have roles in regulating multiple pathways such as the tumor necrosis factor (TNF) mediated signaling pathway and positive regulation of I-κB kinase/NF-κB signaling.

Indexed as

Genetic LociPolymorphism, Single NucleotideArgentinaCeliac DiseaseCell Adhesion MoleculesChromosomes, Human, Pair 12Chromosomes, Human, Pair 22EuropeGenome-Wide Association StudyGuanine Nucleotide Exchange FactorsHumansIntestinal MucosaLymphotoxin beta ReceptorNADPH OxidasesNF-kappa BRAC2 GTP-Binding ProteinCell Adhesion MoleculesCYTH4 protein, humanGuanine Nucleotide Exchange FactorsLTBR protein, humanLymphotoxin beta ReceptorNADPH OxidasesNCF2 protein, humanNF-kappa BRAC2 GTP-Binding Proteinrac GTP-Binding ProteinsTumor Necrosis Factor-alpha

Identifiers

PMID31591516
PMCPMC7028987
OpenAlexW2979243479

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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.