Absolute linkage of celiac disease and dermatitis herpetiformis to HLA-DQ.
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.
Balas
A
A
Laboratory of Histocompatibility, Regional Transfusion Center, Niño Jesus Hospital, Madrid, Spain.
Vicario
J L
JL
Zambrano
A
A
Acuña
D
D
García-Novo
D
D
D000483:Alleles; D002446:Celiac Disease / Q000235:genetics*; D003874:Dermatitis Herpetiformis / Q000235:genetics*; D008040:Genetic Linkage; D006683:HLA-DQ Antigens / Q000235:genetics*; D006239:Haplotypes; D006801:Humans
D006683:HLA-DQ Antigens