Celiac disease (gluten enteropathy, celiac sprue) is a lifelong disease which manifests itself by inflammatory conditions of the small intestine mucosa in individuals with a genetic predisposition. The disease is caused by intolerance to gluten in their diet. In sensitive individuals, peptides contained in gluten induce a complex of immune reactions which lead to the damage of duodenal and jejunal mucosa.
The typical clinical manifestation of this disease are diarrhea and malabsorption, adults may have a nonspecific course of the illness. The basic examination that allows the diagnosis of celiac disease is enterobiopsy and a serological card of tissue transglutaminase or anti-endomysial antibodies and antibodies against gliadin. Although the histology of duodenal mucosa is significantly typical for celiac disease, it does not allow for an unequivocal diagnostic conclusion since such changes may occur also in other diseases. The outbreak of the disease in genetically predisposed individuals requires a further trigger factor which is especially gluten exposure, severe stress or viral infection. The main genetic factor of celiac disease is the presence of specific alleles DS2 or DQ8 of HLA complex located in 6p21, and so HLA-DQA1*05-DQB1*02 (HLA-DQ2) and HLA-DQA1*03-DQB1*0302 (HLA-DQ8).
These alleles are present in more than 90 % of patients with celiac disease (in comparison to 25 % in the common population). Therefore, molecular genetic detection of HLA-DQ2 and HLA-DQ8 genotypes is a very usefull diagnostic tool, since in the patients with gastrointestinal malfunction and with the absence of DQ2 and DQ8 alleles celiac disease can be almost excluded.
In our laboratory we perform the genotyping of HLA-DQ2 and HLA-DQ8 using commercial CE kit which utilizes SSP-PCR and direct electrophoretic detection. Material for the examination is peripheral blood collected into EDTA tube.