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Int J Immunogenet. 2019 Jun 11. doi: 10.1111/iji.12441. [Epub ahead of print]

HLA-DQB1*02 allele in children with celiac disease: Potential usefulness for screening strategies.

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Department of Medicine, Nazarbayev University School of Medicine, Nur-Sultan City (Astana), Kazakhstan.
Department of Pediatrics, University of Pavia, Pavia, Italy.
Department of Clinical Epidemiology and Biometrics, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy.


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.


HLA-DQB1*02; celiac disease; celiac screening; children


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