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. 2019 Oct;46(5):342-345.
doi: 10.1111/iji.12441. Epub 2019 Jun 11.

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

Dimitri Poddighe  1   2 , Cristina Capittini  3 , Ivan Gaviglio  2 , Ilaria Brambilla  2 , Gian Luigi Marseglia  2
Affiliations

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

Dimitri Poddighe et al. Int J Immunogenet. 2019 Oct.

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.

Keywords: HLA-DQB1*02; celiac disease; celiac screening; children.

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