Evidence map›Paper›PMID 41020987›Full record

ArticleHuman genetics2025

Genetic differences between diagnosed and undiagnosed Celiac disease: a population-based study.

Mohammad Sayeef Alam, Brooke N Wolford, Kristian Hveem, Knut E A Lundin, Sebo Withoff, Iris H Jonkers, Ludvig M Sollid, Rebecka Hjort, Eivind Ness-Jensen

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. 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

9 authors.

Mohammad Sayeef AlamHUNT Center for Molecular and Clinical Epidemiology, NTNU, Norwegian University of Science and Technology, Trondheim, Norway. mohammad.s.alam@ntnu.no.
Brooke N WolfordHUNT Center for Molecular and Clinical Epidemiology, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Kristian HveemHUNT Center for Molecular and Clinical Epidemiology, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Knut E A LundinDepartment of Gastroenterology, Oslo University Hospital - Rikshospitalet, Oslo, Norway.
Sebo WithoffDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Iris H JonkersDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Ludvig M SollidNorwegian Coeliac Disease Research Centre, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Rebecka Hjort *HUNT Center for Molecular and Clinical Epidemiology, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Eivind Ness-Jensen *HUNT Center for Molecular and Clinical Epidemiology, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A large proportion of individuals with celiac disease (CeD) remain undiagnosed, often presenting at an older age of onset or with non-classical symptoms compared to diagnosed cases. Such heterogeneity might be related to genetic factors. The aim was to utilize a CeD-screened adult population to compare the genetic variants in known and newly diagnosed cases. In the fourth wave of the population-based Trøndelag Health Study (HUNT4) 826 CeD and 51,516 non-CeD individuals were included. Medical registries identified 361 previously diagnosed cases, while screening identified 465 new cases. A validated polygenic risk score (PRS) was used to assess the genetic risk of CeD among the two case groups versus non-CeD individuals. Additional genetic variants not included in the PRS were also analyzed. The PRS distinguished cases from non-cases with high accuracy (AUROC: 85% for known cases, 83% for new cases). The genetic variation explained by the PRS was similar for known and new cases (17.1% versus 14.5%). The odds ratio for being in the highest genetic risk group (top 10%) was 22.7 (95% CI 14.1-36.4) for known cases and 18.6 (95% CI 12.4-27.9) for new cases versus the median group (40%-60%). Differences in effect size among specific genome-wide variants were observed but were not significantly associated with CeD. A validated PRS showed significant genetic difference between CeD cases and the general population, with similar association in both known and newly diagnosed cases. This suggests that genetic architectures of the two groups are comparable, implying that other non-genetic factors may drive CeD in adults.

Indexed as

Celiac DiseaseGenetic Predisposition to DiseaseAdultAgedFemaleGenetic VariationHumansMaleMiddle AgedMultifactorial InheritanceRisk Factors

Identifiers

PMID41020987
PMCPMC12689682

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.