Abstract
Objective: To identify the HLA profiles of American celiac patients and their relatives and to compare the HLA profile of Italian and American families. Celiac disease (CD) is an autoimmune disorder triggered by gluten ingestion in genetically predisposed subjects. HLA class II alleles DQA1*0501/DQB1*02 and DQB1*0302 (encoding DQ2 and DQ8 haplotype respectively) represent the genetic markers for CD.Methods: Fourteen American celiac families (14 CD patients and 38 first degree relatives, including both parents) and 14 Italian celiac families (14 CD patients and 45 first degree relatives, including both parents) were included in this study. DNA was extracted from whole blood samples. Using the Eu-DQ® Kit (Eurospital, Trieste—Italy), we performed the HLA typing here described. This Kit is composed of two multiplex PCR reactions, one containing DQα1*0501–DQβ1*0302 primers and Beta globin primers as internal control. The second one contains DQβ1*02 and Beta globin primers as internal control. The amplicons obtained were revealed on 2% agarose gel that is stained using Ethidium Bromide.Results: The prevalence of DQ2 alleles among American celiac patients was 64.3% as compared to 85.7% found among the Italian celiac patients (Table 1)Table 1AmericanControlsItalianControlsN subjects screened52505950CD patients1414Relatives of CD pts3845Celiac DQ29 (64.3%)12 (85.7%)Celiac DQ83 (21.4%)2 (14.3%)Celiac DQ2/DQ82 (14.3%)0 (0%). Both the DQ8 alleles and the DQ2/DQ8 heterodimer were more frequent among the American CD subjects than the Italian patients. Interestingly, a similar difference between American and Italian subjects was also observed among the first degree relatives screened (Table 1).Conclusions: American CD patients and their first degree relatives have a higher prevalence of DQ8 alleles, either alone or in combination with DQ2, as compared to Italian CD families.
Published Version
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