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HLA‐DQB1*02 allele in children with celiac disease: Potential usefulness for screening strategies
Author(s) -
Poddighe Dimitri,
Capittini Cristina,
Gaviglio Ivan,
Brambilla Ilaria,
Marseglia Gian Luigi
Publication year - 2019
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/iji.12441
Subject(s) - genotyping , human leukocyte antigen , allele , medicine , disease , serology , hla dq , population , immunology , retrospective cohort study , cohort , genotype , pediatrics , genetics , biology , antigen , haplotype , antibody , gene , environmental health
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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