Test Summary

Celiac disease is a multigenic immune-mediated enteropathy triggered by dietary proteins, commonly known as glutens, present in wheat, barley, and rye. Varied clinical manifestations begin either in childhood or adult life. Its prevalence in the united states ranges from 0.5 to 1%. Celiac disease is strongly associated with the HLA genetic region. Approximately 90% of celiac patients express the HLA-DQ2 molecule. Most of the DQ2 negative patients express the HLA-DQ8 molecule. Gluten peptides presented by these HLA molecules induce an abnormal mucosal immune response and tissue damage.  The HLA-DQ molecules are heterodimers of an alpha and a beta chain. The beta chain of HLA-DQ2 is coded by HLA-DQB1*02 and of DQ8 by HLA-DQB1*0302. HLA-DQB1 genotyping allows clinicians to evaluate the genetic predisposition for celiac disease in a patient.

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