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

机译:HLA-DQB1 * 02等位基因患有乳糜泻的儿童:筛选策略的潜在有用性

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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.
机译:摘要通过回顾性分析腹腔疾病的现实生活队列的患儿?(CD),WHA-DQ基因分型接受了HLA-DQ基因分型,我们支持我们之前的发现,表明存在HLA-DQB1 * 02等位基因至少90%-95 占儿科患者的百分比。 在本研究中,从184名儿童报告HLA-DQ分析(年龄范围:1-16岁)诊断为单一中心的CD,我们发现所有这些CD儿童的97.29%(n?= 179 184个基因分型患者,导致HLA-DQB1 * 02等位基因的至少一种拷贝的载体。 如果对CD的扩大筛查应该导致?是?适合在儿科人口之后?进一步的临床研究,可能会潜在利用这种观察来考虑两步筛选策略,从HLA-DQB1 * 02靶向分析开始? 其次仅在这些预见的患者中的CD特异性血清学。 但是,需要额外的和更大的研究来支持我们的研究结果。

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