Absolute linkage of celiac disease and dermatitis herpetiformis to HLA‐DQ

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Abstract
This report shows the absolute genetic linkage of celiac disease (CD) to the HLA‐DQ region, and supports the fact that dermatitis herpetiformis (DH) follows the same pattern of HLA‐mediated susceptibility in extensive series of Caucasian Spanish patients. Ninety‐five percent of CD (201 of 212) and 100% of DH (55) patients could produce DQã1*0501‐DQβ1*02 heterodimers. Negative CD patients for this combination were mostly DR4‐DQ8 (DQA1*03‐DQB1*0302) (9 of 11), along with a restricted number of complementary chromosomes. Comparison of observed and expected DQA1‐DQB1 genotype distributions (Hardy‐Weinberg equilibrium) showed that the excess of patients with DQB1*02 in double doses would be the consequence for which this allele should be complemented by DQA1*0501. Homozygosity for DQA1*O501 would restrain susceptibility to CD and DH.