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MINI REVIEW article

Front. Genet.
Sec. Immunogenetics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1441769
This article is part of the Research Topic Proficiency testing in Histocompatibility and Immunogenetics: current status and future perspectives View all 13 articles

Harmonization of the HLA tests for diagnostics of coeliac disease -experiences from the Czech external proficiency testing program

Provisionally accepted
Milena Vrana Milena Vrana 1*Jana Tajtlova Jana Tajtlova 2Frantisek Mrazek Frantisek Mrazek 3
  • 1 Institute of Haematology and Blood Transfusion (Czechia), Prague, Czechia
  • 2 Department of Medical Genetics, Thomayer University Hospital, Prague, Czech Republic, Prague, Czechia
  • 3 HLA laboratory, Department of Immunology, University Hospital, Olomouc, Czechia

The final, formatted version of the article will be published soon.

    Coeliac disease (CD) is an autoimmune disorder caused by the ingestion of gluten-containing grains. One of the prerequisites for the development of the disease is the presence of specific combinations of HLA alleles at the DQA1 and DQB1 loci. The HLA test is a supportive examination for the diagnosis. In the Czech Republic, about 3500 of HLA tests for CD diagnostics are performed annually in almost three dozen of the laboratories. The HLA Department of the Institute of Hematology and Blood Transfusion in Prague has been offering EPT "Detection of HLA Alleles Associated with Diseases" for more than ten years. The results are evaluated in terms of correct determination of predisposing alleles/allelic groups and the clinical interpretation. Every year we notice some problems with the detection of CDassociated alleles and the interpretation of the results. Annual workshops are part of this EPT and they concern also on recommendations for result interpretation. The interpretation is evolving based on current knowledge in the field. The current recommendation for interpretation was adopted in 2023. This recommendation divides HLA-DQA1/DQB1 genotypes into three categories:Detected HLA genotype is associated with predisposition to coeliac disease 2) Coeliac disease could not be excluded based on detected HLA genotype.Coeliac disease could be excluded with high probability based on detected HLA genotype.The quality of examinations is increasing but still has to be improved. Correct results and accurate interpretation can help clinicians to concern on diagnosis of coeliac disease in appropriate patients.

    Keywords: coeliac disease, HLA, External proficiency testing, disease association, Genetic Susceptibility

    Received: 31 May 2024; Accepted: 02 Aug 2024.

    Copyright: © 2024 Vrana, Tajtlova and Mrazek. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Milena Vrana, Institute of Haematology and Blood Transfusion (Czechia), Prague, Czechia

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.