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.

中文翻译：

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乳糜泻儿童的 HLA-DQB1*02 等位基因：筛查策略的潜在用途

通过对接受 HLA-DQ 基因分型的乳糜泻 (CD) 儿童的真实生活队列进行回顾性分析，我们支持我们之前的发现，表明至少 90%–95% 的患者中存在 HLA-DQB1*02 等位基因。儿科患者。在本研究中，报告了对单个中心诊断为 CD 的 184 名儿童（年龄范围：1-16 岁）的 HLA-DQ 分析，我们发现所有这些 CD 儿童中的 97.29%（184 名基因型患者中的 179 ) 是至少一个 HLA-DQB1*02 等位基因拷贝的携带者。如果在进一步的临床研究后扩大 CD 筛查适用于儿科人群，则可能会利用这一观察结果来考虑两步筛查策略，从 HLA-DQB1*02 靶向分析开始，然后仅对这些易感患者进行 CD 的特定血清学检测。然而，需要更多和更大规模的研究来支持我们的发现。