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

Research output: Contribution to journalArticle


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.

Original languageEnglish
JournalInternational Journal of Immunogenetics
Publication statusPublished - Jan 1 2019


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

ASJC Scopus subject areas

  • Immunology
  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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