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A Clinician's Guide to Celiac Disease HLA Genetics
Nicholas K Brown1, Stefano Guandalini2, Carol Semrad2
1Department of Pathology, University of Chicago, Chicago, Illinois, USA.
The American Journal of Gastroenterology
|July 6, 2019
Summary
Human Leukocyte Antigen (HLA) genetic testing for celiac disease identifies susceptibility but has limitations. Understanding HLA-DQ2/DQ8 testing is crucial for clinicians evaluating patients and their families.
Area of Science:
- Immunogenetics
- Gastroenterology
Background:
- Celiac disease is an immune-mediated condition triggered by gluten.
- Genetic predisposition, particularly Human Leukocyte Antigen (HLA) class II genes (HLA-DQ2 and HLA-DQ8), is a key factor.
- HLA testing aids in celiac disease diagnosis and risk assessment.
Purpose of the Study:
- To provide a practical guide for clinicians on HLA genetic testing in celiac disease.
- To clarify the role and interpretation of HLA-DQ2 and HLA-DQ8 testing.
- To inform clinicians about the utility and limitations of HLA genetic testing.
Main Methods:
- Review of current literature on HLA genetics and celiac disease.
- Analysis of the diagnostic value of HLA-DQ2 and HLA-DQ8 testing.
- Synthesis of practical recommendations for clinical application.
Main Results:
- HLA-DQ2 and HLA-DQ8 are the primary genetic markers for celiac disease susceptibility.
- HLA genetic testing demonstrates high negative predictive value but low positive predictive value.
- Clinical interpretation requires careful consideration of test results in context.
Conclusions:
- HLA genetic testing is a valuable tool in evaluating celiac disease, especially for ruling out the condition.
- Understanding the nuances of HLA testing, including its predictive values, is essential for appropriate clinical use.
- This review serves as a primer for clinicians on ordering and interpreting HLA genetic tests for celiac disease.