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

Dimitri Poddighe, Cristina Capittini, Ivan Gaviglio, Ilaria Brambilla, Gian Luigi Marseglia

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


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
Pages (from-to)342-345
Number of pages4
JournalInternational Journal of Immunogenetics
Issue number5
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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