title: Allelic distribution and the effect of haplotype combination for HLA type II loci in the celiac disease population of the Valencian community (Spain).
abstract: The association between human leukocyte antigen (HLA) class II antigens and celiac disease (CD) was analyzed in a Spanish population. No association with DRB1*04 and DQB1*0302 was noted. The main associated haplotype (70.8%) was DRB1*03-DQB1*0201-DQA1*0501(DR3-DQ2), followed by DRB1*07-DQB1*0202-DQA1*0201 (DR7-DQ2) haplotype, which is associated with DRB1*11-DQB1*0301-DQA1*0505 (DR11-DQ7). The combinations of DR3-DQ2 with DR7-DQ2, and DR7-DQ2 with DR11-DQ7, present a twofold risk compared with each haplotype in homozygosis. An independence test in DR3-DQ2 haplotype found that association with CD was attributable to the whole haplotype, but for DR7-DQ2 was secondary to DQB1/DQA1. There is no need of a double gene dosage to increase the risk. CD-associated alleles typing demonstrates a very high negative predictive value to exclude CD in risk groups.
authors.affiliation: Gastroenterology Unit, La Fe Children's Hospital, Valencia, Spain. donat_est@gva.es
authors.forename: E
authors.initials: E
authors.lastname: Donat
authors.forename: D
authors.initials: D
authors.lastname: Planelles
authors.forename: A
authors.initials: A
authors.lastname: Capilla-Villanueva
authors.forename: J A
authors.initials: JA
authors.lastname: Montoro
authors.forename: F
authors.initials: F
authors.lastname: Palau
authors.forename: C
authors.initials: C
authors.lastname: Ribes-Koninckx
mesh_terms: D000483:Alleles; D002446:Celiac Disease / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006681:HLA-D Antigens / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D044382:Population Groups; D013030:Spain
chemical_list: D006681:HLA-D Antigens