HLA-DRB1/DQA1/DQB1 Alleles and Haplotypes in Czech Childrenwith Celiac Disease

Overview

Background.
The celiac disease (CD) is amultifactor disease resulting from a life time abnormal immune responseto gluten accompanied by autoimmune characteristics, which can in sensitive individuals evoke small bowel mucosamorphologic changes. The genetically sensitive individual to CD has not been defined yet, it is obvious, however,that this illness is closely linked to the HLA class II genes. The objective of our study was to detect associations ofHLA class II alleles and haplotypes DRB1/DQA1/DQB1 in Czech CD children.Methods and Results. A group of Czech CD children diagnosed according to ESPGHAN criteria was genotypedHLA for alleles of DRB1/DQA1/DQB1 loci. Genotyping of the HLA-DRB1/DQA1/DQB1 haplotypes provedstatistically significant association CD with haplotypes and alleles of this genetic system. 92.9 % of patients havein their HLA phenotype allele DQA1*0501 in either cis or trans configuration with the DQB1 allele *0201/*0202.The extended HLA haplotype DRB*0301/DQA1*0501/DRB1*0201 as well as the haplotype DRB1*0701/DQA1*0201/DQB1*0202, are presented in 63.6 % or in 61.0 % CD patients respectively. The individual HLA classII alleles DRB*0301, *0701, DQA1*0201, *0501, DQB1*0201, *0202 and the above mentioned HLA haplotypesinclusively provide genotypic frequencies significantly different from healthy Czech individuals (P

Key words:
celiac disease, HLA class II alleles, DRB1/DQA1/DQB1 haplotype.