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Clinical Chemistry and Laboratory Medicine (CCLM)

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A multiplex assay to rapidly exclude HLA-DQ2.5 and HLA-DQ8 expression in patients at risk for celiac disease

1 / Elianne A. Roelandse-Koop1 / Raymon Vijzelaar2 / Rizkat Yilmaz2 / Ingrid M.W. van Hoogstraten3 / Marco W.J. Schreurs4 / Alice A.M. Verheul1 / Arend Jan van Houte1, 5 / Wouter Kortlandt1

1Department of Clinical Chemistry, Hematology and Immunology, Diakonessenhuis, Utrecht, The Netherlands

2MRC-Holland B.V., Amsterdam, The Netherlands

3Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands

4Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherland

5Department of Medical Microbiology and Immunology, Diakonessenhuis, Utrecht, The Netherlands

Corresponding author: Ellen M. van Beek, Department of Clinical Chemistry, Hematology and Immunology, Diakonessenhuis Utrecht, Bosboomstraat 1, 3582 KE Utrecht, The Netherlands

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 51, Issue 6, Pages 1191–1198, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/cclm-2012-0774, December 2012

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This article offers supplementary material which is provided at the end of the article.


Background: Celiac disease (CD) is an inflammatory disorder of the small intestine induced by gluten ingestion. CD has a strong genetic association with human leukocyte antigen (HLA)-DQ2.5 and HLA-DQ8. The absence of HLA-DQ2.5 and HLA-DQ8 has a strong negative predictive value for CD. Genetic screening of HLA-DQ2.5 and HLA-DQ8 in patients at risk is of great value.

Methods: We designed, developed, and validated a multiplex assay based on multiplex ligation-dependent probe amplification (MLPA) technology, allowing the simultaneous detection of DQA1*05-DQB1*02, encoding HLA-DQ2.5, and DQA1*03-DQB1*03:02, encoding HLA-DQ8. The amplified products were separated and identified using capillary electrophoresis.

Results: When compared with a polymerase chain reaction followed by single-strand conformation polymorphism/ heteroduplex analysis, one discrepancy was found. Sequencing analysis showed that the developed MLPA assay result was correct. Furthermore, we demonstrated that the MLPA method is able to distinguish between the heterozygote and homozygote expression of HLA-DQ2.5 or HLA-DQ8.

Conclusions: This study shows that it is possible to rapidly and accurately screen for the absence of HLA-DQ2.5 and HLA-DQ8 using MLPA, excluding patients at risk for CD for further serological or histological follow-up. In addition, MLPA might be an accurate tool to screen for other specific HLA types in the context of disease association in a diagnostic laboratory setting.

Keywords: celiac disease; DQ2.5; DQ8; human leukocyte antigen (HLA); multiplex ligation-dependent probe amplification (MLPA)

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