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The Role of Human Leukocyte Antigen in Celiac Disease Diagnostics
Eszter Lázár-Molnár1, Melissa Snyder2
1ARUP Laboratories, Department of Pathology, University of Utah School of Medicine, 500 Chipeta Way, MS 115, Salt Lake City, UT 84108, USA.
Abstract:
Celiac disease is an autoimmune disease affecting the small intestine, triggered by gluten sensitization in genetically susceptible individuals worldwide. Celiac disease development is strongly linked to the presence of HLA-DQ2 and/or DQ8, which present the immunogenic gluten peptides and trigger the immune response leading to pathogenesis. Because of the variability of clinical symptoms, the disease is often underdiagnosed. Intestinal biopsy and the presence of antibodies to deamidated gliadin and tissue transglutaminase are recommended diagnostic tools. Genetic testing for HLA DQ2 and DQ8 can be used to rule out disease in at-risk populations.
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