Most celiac disease patients (approximately 90 percent) carry HLA-DQ2.5 heterodimers encoded by HLA-DQA1*05 and HLA-DQB1*02 alleles. The remaining 5-10 percent of the patients carry HLA-DQ8, encoded by HLA-DQB1*03:02 allele, most commonly in combination with HLA-DQA1*03 alleles. A minority of patients negative for the above genotypes may carry.. Carrying HLA DQ2 and/or DQ8 is not a diagnosis of celiac disease nor does it mean you will ever develop celiac disease. However, if you carry HLA DQ2 and/or DQ8, your risk of developing celiac disease is 3% instead of the general population risk of 1%. Since celiac disease is genetic, this means it runs in families.

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Negative results for both HLA-DQ2 and HLA-DQ8 virtually exclude the diagnosis of CD and indicate an extremely low risk for subsequent development of the disease. 1,3 In rare cases, however, when DQ2 and DQ8 heterodimers are negative, the presence of 1 of the DQ2 alleles (ie, either DQA1*05 or DQB1*02) is consistent with a diagnosis of CD. 7.. The HLA class II antigens DQ2 (DQA1*05/DQB1*02) and DQ8 (DQA1*0301/DQB1*0302) are the major risk factors predisposing individuals to Celiac Disease and account for over 35% of the genetic risk. Close to 90% of patients with Celiac Disease express the HLA-DQ2 molecules with most of the remainder expressing the HLA-DQ8 molecule.