Through a retrospective analysis of a real‐life cohort of children with celiac disease (CD), who underwent HLA‐DQ genotyping, we supported our previous findings indicating the presence of HLA‐DQB1*02 allele in… Click to show full abstract
Through a retrospective analysis of a real‐life cohort of children with celiac disease (CD), who underwent HLA‐DQ genotyping, we supported our previous findings indicating the presence of HLA‐DQB1*02 allele in at least 90%–95% of pediatric patients. In the present study, reporting the HLA‐DQ analysis from 184 children (age range: 1–16 years) diagnosed with CD in a single centre, we found that 97.29% of all these CD children (n = 179 out of 184 genotyped patients) resulted to be carriers of at least one copy of HLA‐DQB1*02 allele. If a widened screening for CD should result to be appropriate in the pediatric population after further clinical research, this observation might be potentially exploited to consider a two‐step screening strategy, starting with the HLA‐DQB1*02 targeted analysis followed by the specific serology for CD in these predisposed patients only. However, additional and larger studies are needed to support our findings.
               
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