Evidence map›Paper›PMID 33446885›Full record

ArticleJournal of human genetics2021

Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes.

Juliana X M Cerqueira, Päivi Saavalainen, Kalle Kurppa, Pilvi Laurikka, Heini Huhtala, Matti Nykter, Lotta L E Koskinen, Dawit A Yohannes, Elina Kilpeläinen, Anastasia Shcherban and 3 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.0field-weighted citation impact, top 14% 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

11 citing papers in PubMed, 19 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Review
  6. Article
  7. Review
  8. Toll-like Receptors and Celiac Disease.International journal of molecular sciences · 2022
    Review
  9. Replacing the Burden of the Gluten Free Diet: Then, Now, and the Future.International journal of molecular sciences · 2022
    Review
  10. Celiac disease: From genetics to epigenetics.World journal of gastroenterology · 2022
    Review
  11. Dissecting the contribution of single nucleotide polymorphisms inJournal of translational autoimmunity · 2021
    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

13 authors at 3 institutions in 2 countries.

Juliana X M CerqueiraCoeliac Disease Research Center, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.ORCID http://orcid.org/0000-0002-5670-9073
Päivi SaavalainenResearch Programs Unit, Immunobiology, and the Haartman Institute, Department of Molecular Genetics, University of Helsinki, Helsinki, Finland.
Kalle KurppaCenter for Child Health Research, Tampere University and Tampere University Hospital, Tampere, and the University Consortium of Seinäjoki, Seinäjoki, Finland.
Pilvi LaurikkaCoeliac Disease Research Center, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Heini HuhtalaFaculty of Social Sciences, Tampere University, Tampere, Finland.
Matti NykterLaboratory of Computational Biology, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Lotta L E KoskinenResearch Programs Unit, Immunobiology, and the Haartman Institute, Department of Molecular Genetics, University of Helsinki, Helsinki, Finland.
Dawit A YohannesResearch Programs Unit, Immunobiology, and the Haartman Institute, Department of Molecular Genetics, University of Helsinki, Helsinki, Finland.
Elina KilpeläinenInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Anastasia ShcherbanInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Katri KaukinenCoeliac Disease Research Center, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.ORCID http://orcid.org/0000-0002-5046-8133
Katri LindforsCoeliac Disease Research Center, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland. katri.lindfors@tuni.fi.
Tampere University · FIUniversity of Helsinki · FIBroad Institute · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The phenotype of coeliac disease varies considerably for incompletely understood reasons. We investigated whether established coeliac disease susceptibility variants (SNPs) are individually or cumulatively associated with distinct phenotypes. We also tested whether a polygenic risk score (PRS) based on genome-wide associated (GWA) data could explain the phenotypic variation. The phenotypic association of 39 non-HLA coeliac disease SNPs was tested in 625 thoroughly phenotyped coeliac disease patients and 1817 controls. To assess their cumulative effects a weighted genetic risk score (wGRS39) was built, and stratified by tertiles. In our PRS model in cases, we took the summary statistics from the largest GWA study in coeliac disease and tested their association at eight P value thresholds (P

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyAdaptor Proteins, Signal TransducingAdolescentAdultAgedAtaxin-2Celiac DiseaseChildChild, PreschoolDiabetes MellitusFemaleGenotypeHumansInfantMaleAdaptor Proteins, Signal TransducingAtaxin-2ATXN2 protein, humanSH2B3 protein, humanTLR7 protein, humanTLR8 protein, humanToll-Like Receptor 7Toll-Like Receptor 8

Identifiers

PMID33446885
PMCPMC8144013
OpenAlexW3125762639

What OpenQuestion holds

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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.