title: The HLA-DRB4 gene is present in half of the Spanish HLA-DQ2-negative celiac patients.
abstract: We studied nine consecutive DQ2-negative celiacs [from a group of 186 consecutive celiac disease (CD) patients] for the presence of the HLA-DQB1, DRB1, and DRBx alleles. HLA-DR53 was present in only 5 out of 9 (55%) of DQ2-negative patients. DRB4 (DR53) positivity -39% of chromosomes--among Spanish DQ2-negative CD patients is due to both DR4- and DR7-positive cases. Spanish DQ2-positive patients show a high frequency of DR7/DR11 heterozygous carriers of DRB4 (DR53). One-third of our DQ2-negative celiac patients have DRB1*04 (DR4). Six patients are DR4 negative: at least one of the DQ2 alleles (DQA1*0501/DQB1*02) is present in four cases, but none of the alleles of risk, including DR53, were found in the remaining two cases, both of whom carry DQB1*06 alleles (*0602/3 and 0604). The fact that half of our DQ2-negative patients lack DRB4 (DR53) leads us to believe that this gene is not an essential factor to confer CD susceptibility.
authors.affiliation: Laboratorio de Pediatría, Facultad de Medicina, Valladolid, Spain. garrote@ped.uva.es
authors.forename: J A
authors.initials: JA
authors.lastname: Garrote
authors.forename: E
authors.initials: E
authors.lastname: Arranz
authors.forename: A
authors.initials: A
authors.lastname: Blanco-Quirós
mesh_terms: D000483:Alleles; D002446:Celiac Disease / Q000235:genetics* / Q000276:immunology*; D006683:HLA-DQ Antigens / Q000235:genetics*; D006684:HLA-DR Antigens / Q000235:genetics*; D059845:HLA-DRB4 Chains; D006239:Haplotypes; D006801:Humans; D012307:Risk Factors; D013030:Spain
chemical_list: D006683:HLA-DQ Antigens; C053186:HLA-DQ2 antigen; D006684:HLA-DR Antigens; D059845:HLA-DRB4 Chains