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Evaluation of a new microarray method for genotyping of HLA-DQ2 and HLA-DQ8 for investigation of celiac disease
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
2012 (Swedish)Independent thesis Basic level (degree of Bachelor), 10 credits / 15 HE creditsStudent thesis
Abstract [en]

Celiac disease (CD) is an autoimmune disease, induced by an immune mediated reaction in the small intestine after ingestion of gluten and related prolamines. There is a strong genetic linkage and most important are the genes that encodes for HLA-DQ2 and HLA-DQ8. The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) has developed new guidelines for investigation of CD in children and adolescents, which include genotyping for HLA-DQ2 and HLA-DQ8. Therefore, the clinical microbiological laboratory in Västmanland wants to introduce a method for analysis of these genes. Microarray is a newly developed method for determination of the alleles HLA-DQA1 and HLA-DQB1 that encodes for the α- and β-subunits of the HLA-molecules. The method was verified for accuracy and repeatability, and also two extraction methods were compared. Samples from blood donors and laboratory personnel were analysed for HLA-DQ and tissue transglutaminase antibodies (anti-tTG), and two families were investigated according to the ESPGHAN guidelines. 48.3 % of the blood donors were positive for HLA-DQ2 and/or HLA-DQ8 and 30.4 % of the laboratory personnel, were positive for HLA-DQ2 or HLA-DQ8. Those who were tested for anti-tTG had no antibody response. Genotyping for HLA-DQ2 and HLA-DQ8 is a simple way to exclude CD, but it can also be used to confirm diagnosis in patients with symptoms and high anti-tTG levels and thus avoiding a biopsy. The results in the accuracy and repeatability tests showed that the microarray is a reliable method for detection of the HLA-DQ2 and HLA-DQ8 genes associated with CD.

Place, publisher, year, edition, pages
2012. , 16 p.
National Category
Biomedical Laboratory Science/Technology
URN: urn:nbn:se:uu:diva-176139OAI: diva2:534355
Educational program
Biomedicinska analytikerprogrammet
Available from: 2012-06-20 Created: 2012-06-16 Last updated: 2012-06-20Bibliographically approved

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