title: Different dose effect of HLA-DQ alpha beta heterodimers in insulin-dependent diabetes mellitus and celiac disease susceptibility.
abstract: To compare the quantitative effect of the DQ alpha beta heterodimers DQ alpha 52 Arg+, beta 57 Asp- and DQ alpha 1*0501, beta 1*0201 on susceptibility to IDDM and CD, we characterized, at the genomic level, the DQ alpha 52 and DQ beta 57 residues of 50 IDDM Italian patients observed in Rome. The results were compared with those of a previous study concerning the oligotyping of DQ dimers in a group of CD children belonging to the same population. Our data confirm that both diseases are primarily associated with HLA-DQ alpha beta heterodimers, but the distributions of the respective susceptible DQA1 and DQB1 alleles in the two diseases were different. In fact, the highest risk of IDDM is for subjects alpha SS, beta SS that could express, by either cis- or trans-association, four susceptible heterodimers and decreases in proportion to the number of these; in regard to CD, the highest risk was found for individuals who carried only one predisposing heterodimer.
authors.affiliation: Department of Experimental Medicine, La Sapienza University, Rome, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Petronzelli
authors.forename: G
authors.initials: G
authors.lastname: Multari
authors.forename: P
authors.initials: P
authors.lastname: Ferrante
authors.forename: M
authors.initials: M
authors.lastname: Bonamico
authors.forename: G
authors.initials: G
authors.lastname: Rabuffo
authors.forename: L
authors.initials: L
authors.lastname: Campea
authors.forename: M C
authors.initials: MC
authors.lastname: Mazzilli
mesh_terms: D000483:Alleles; D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology; D002446:Celiac Disease / Q000235:genetics* / Q000276:immunology; D002648:Child; D003062:Codon; D015343:DNA Probes, HLA; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D004198:Disease Susceptibility / Q000276:immunology; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics* / Q000276:immunology; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007558:Italy; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D003062:Codon; D015343:DNA Probes, HLA; D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C057615:HLA-DQbeta antigen