Genetic Background of Celiac Disease and Its Clinical Implications

Victorien M. Wolters, M.D.; Cisca Wijmenga, Ph.D.


Am J Gastroenterol. 2008;103(1):190-195. 

In This Article

Clinical Relevance

To date, only HLA-DQ2 or HLA-DQ8 typing is clinically relevant, as all the other promising genetic loci could not be replicated consistently. The main role of HLA typing lies in its high negative predictive value to exclude CD (close to 100%). CD can be virtually excluded in nonbiopsy-proven white individuals on a gluten-free diet who are non-HLA-DQ2 and non-HLA-DQ8. HLA typing can be useful to help exclude the possibility of the future development of CD in patients at high risk and can provide additional information if the clinical picture is unclear. First-degree relatives of CD patients should be HLA typed and if CD cannot be excluded (i.e., HLA-DQ2 or HLA-DQ8 positive) serologic tests might be performed in asymptomatic patients with a frequency of approximately every 5-10 yr when patients still have growing potential (<20 yr). In asymptomatic HLA-DQ2/DQ8 positive first-degree relatives >20 yr old one single screening at the age of ~50 yr might be indicated as complications of CD can develop. When a first-degree relative is symptomatic, a low threshold for biopsy is indicated.


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