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  • Title: A Clinician's Guide to Celiac Disease HLA Genetics.
    Author: Brown NK, Guandalini S, Semrad C, Kupfer SS.
    Journal: Am J Gastroenterol; 2019 Oct; 114(10):1587-1592. PubMed ID: 31274511.
    Abstract:
    Celiac disease is a common inflammatory disease triggered by dietary gluten in genetically susceptible individuals. The strongest and best-characterized genetic susceptibilities in celiac disease are class II human leukocyte antigen (HLA) genes known as HLA-DQ2 and DQ8. HLA genetic testing is available through a number of commercial and academic laboratories and is used in the evaluation of celiac disease and to identify at-risk family members. Importantly, HLA genetic testing has a high negative predictive value for celiac disease, but a low positive predictive value. Therefore, for a practicing clinician, it is important to understand when to order HLA genetic testing, what test to order, and how to interpret the result. This review provides a practical primer on HLA genetics in celiac disease.
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