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

Clinically Relevant Conclusions

  • Genetic susceptibility is a prerequisite for developing CD, with HLA class II as the most important genetic factor identified so far.

  • The absence of HLA-DQ2/DQ8 can exclude the possibility or future development of CD with a certainty close to 100%.

  • In asymptomatic HLA-DQ2/DQ8 positive first-degree relatives <20 yr old serologic screening is indicated approximately every 5-10 yr. In asymptomatic HLA-DQ2/DQ8 positive first-degree relatives >20 yr old one single screening at the age of approximately 50 yr is indicated, as complications of CD can develop.

  • The presence of HLA-DQ2/DQ8 is clinically irrelevant since 30-40% of the general population is positive for one or both of these factors and only a fraction (0.5-1%) of these individuals has CD.

  • Considerable advances in the genetics of CD will identify more genetic determinants for CD development and disease progression and establish clinically relevant genetic risk profiles. CD might serve as a model for other autoimmune diseases.

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