Human Leukocyte Antigen-DQ Allotypes in Adults Screened for Celiac Disease Reveal Historical Misdiagnosis - Results From the Trøndelag Health Study
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Le résumé fourni par la source
BACKGROUND & AIMS: The HLA-DQ2.5, -DQ2.2, or -DQ8 allotypes are necessary for celiac disease (CeD) development. Their distribution may vary between adults with known, previously diagnosed CeD and newly diagnosed CeD detected through screening. METHODS: In the population-based the Trøndelag Health Study 4 (HUNT4) study, 52,588 Norwegian adults were screened for CeD, identifying 846 (376 known, 465 new biopsy-confirmed, and 163 potential) cases. Anti-transglutaminase 2 seropositive subjects and a random sample of 1412 controls underwent HLA-DQA1- and HLA-DQB1-sequencing to infer relevant HLA-DQ allotypes. RESULTS: All new cases were DQ2- or DQ8-positive, whereas 21 known cases were DQ2- and DQ8-negative, suggesting misdiagnosis. Histologic reassessment confirmed the diagnosis in 5 of the 21 known cases. After adjusting the known cases to 360, DQ2.5 frequencies were 87.8% in confirmed cases, 76.7% in potential cases, and 22.9% in controls. Among DQ2.5-negative subjects, DQ8 was most frequent, with 8.5% in confirmed cases and 10.4% in potential cases. DQ2.5/DQ2.5 carried the highest risk (odds ratio [OR], 16.7; 95% confidence interval [CI], 9.7-31.4), followed by DQ2.5/DQX (OR, 5.7; 95% CI, 4.7-7.0), DQ8/DQ8 (OR, 8.8; 95% CI, 4.6-16.8), and DQ8/DQX (OR, 2.6; 95% CI, 1.7-3.8). ORs for DQ2.2/DQ2.2 and DQ2.2/DQX were 3.4 (95% CI, 0.5-15.0) and 0.8 (95% CI, 0.4-1.6), respectively. No clear differences were observed between known and new cases; however, ORs for DQ2.5/DQX and DQ8 were higher in new cases. CONCLUSIONS: This study found a gene-dose effect for DQ2.5, DQ8, and DQ2.2 in both known and new cases, with a fairly high proportion of DQ8 for a Nordic population. A substantial proportion of DQ2- or DQ8-negative subjects among known cases, but absent in new cases, could be attributed to historical misdiagnosis.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Human Leukocyte Antigen-DQ Allotypes in Adults Screened for Celiac Disease Reveal Historical Misdiagnosis - Results From the Trøndelag Health Study
- Date Crossref
- 01/08/2026
- Éditeur
- Elsevier BV
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Norwegian University of Science and Technology HUNT Research Centre pays non établi dans la noticeUniversité ou école supérieure
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Levanger Hospital pays non établi dans la noticeÉtablissement de santé
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University of Groningen Department of Genetics pays non établi dans la noticeUniversité ou école supérieure
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Oslo University Hospital pays non établi dans la noticeÉtablissement de santé
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St Olav's University Hospital pays non établi dans la noticeÉtablissement de santé
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University of Oslo Norwegian Celiac Disease Research Centre pays non établi dans la noticeUniversité ou école supérieure
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Trondheim University Hospital Department of Pathology pays non établi dans la noticeUniversité ou école supérieure
HUNT Research Centre — Norwegian University of Science and Technology, Levanger Hospital et Department of Genetics — University of Groningen, avec 4 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.