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

Tissue Antigens. 1997 Jul;50(1):52-6. doi: 10.1111/j.1399-0039.1997.tb02834.x.


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 DQ alpha 1*0501-DQ beta 1*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*0501 would restrain susceptibility to CD and DH.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Celiac Disease / genetics*
  • Dermatitis Herpetiformis / genetics*
  • Genetic Linkage*
  • HLA-DQ Antigens / genetics*
  • Haplotypes
  • Humans


  • HLA-DQ Antigens