A Clinician's Guide to Celiac Disease HLA Genetics

Am J Gastroenterol. 2019 Oct;114(10):1587-1592. doi: 10.14309/ajg.0000000000000310.


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.

Publication types

  • Review

MeSH terms

  • Biomarkers / blood
  • Biopsy
  • Celiac Disease / blood
  • Celiac Disease / diagnosis*
  • Celiac Disease / genetics
  • Celiac Disease / immunology
  • Duodenum / immunology
  • Duodenum / metabolism
  • Duodenum / pathology
  • Gastroenterology / standards
  • Genetic Predisposition to Disease
  • Genetic Testing / standards*
  • Glutens / immunology
  • Glutens / metabolism
  • HLA-DQ Antigens / genetics*
  • HLA-DQ Antigens / immunology
  • Humans
  • Intestinal Absorption / genetics
  • Intestinal Absorption / immunology
  • Intestinal Mucosa / immunology
  • Intestinal Mucosa / metabolism
  • Intestinal Mucosa / pathology
  • Practice Guidelines as Topic*
  • Predictive Value of Tests


  • Biomarkers
  • HLA-DQ Antigens
  • HLA-DQ2 antigen
  • HLA-DQ8 antigen
  • Glutens