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Allelic distribution and the effect of haplotype combination for HLA type II loci in the celiac disease population of the Valencian community (Spain) |
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| Authors: | E Donat D Planelles A Capilla-Villanueva J A Montoro F Palau & C Ribes-Koninckx |
| Institution: | Gastroenterology Unit, La Fe Children's Hospital, Valencia, Spain; Histocompatibility Unit, Comunidad Valenciana Transfusion Centre, Valencia, Spain; Genetic and Molecular Medicine Unit, Biomedicine Institute, CSIC, Valencia, 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. |
| Keywords: | Celiac disease Comunidad Valenciana HLA DQ2 heterodimer synergistic effect |