The detection of the heterodimeric surface receptors HLA-DQ2 (HLA-DQ2.2 and -DQ2.5) and HLA-DQ8 has great significance in the diagnosis of coeliac disease (gluten-sensitive enteropathy), an autoimmune disease which occurs in predisposed individuals as a reaction to gluten sensitivity. Although these markers are not particularly specific (around 50% of the healthy population is also positive for HLA-DQ2 and/or -DQ8), the absence of these risk factors is an important exclusion criterion as they possess a high negative predictive value of nearly 100 %. If DQ2.2, DQ2.5 or DQ8 are detected in a patient, then coeliac disease can be virtually excluded.
Moreover, differentiation between homo- and heterozygous presence of the alleles which code the alpha and beta subunits of HLA-DQ2.2 and -DQ2.5 enables an improved risk assessment in the case of a positive HLA-DQ2 result.
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