Centre for Food and Allergy Research, Murdoch Childrens Research Institute, Parkville, Australia; Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia; University of Melbourne Department of Paediatrics, Melbourne, Australia; In-FLAME, the International Inflammation Network, World Universities Network (WUN), Perth, Australia.
Centre for Food and Allergy Research, Murdoch Childrens Research Institute, Parkville, Australia; Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia.
J Allergy Clin Immunol. 2015 May;135(5):1319-28.e1-12. doi: 10.1016/j.jaci.2014.12.1933. Epub 2015 Feb 10.
The diagnosis of food allergy (FA) can be challenging because approximately half of food-sensitized patients are asymptomatic. Current diagnostic tests are excellent makers of sensitization but poor predictors of clinical reactivity. Thus oral food challenges (OFCs) are required to determine a patient's risk of reactivity.
We sought to discover genomic biomarkers of clinical FA with utility for predicting food challenge outcomes.
Genome-wide DNA methylation (DNAm) profiling was performed on blood mononuclear cells from volunteers who had undergone objective OFCs, concurrent skin prick tests, and specific IgE tests. Fifty-eight food-sensitized patients (aged 11-15 months) were assessed, half of whom were clinically reactive. Thirteen nonallergic control subjects were also assessed. Reproducibility was assessed in an additional 48 samples by using methylation data from an independent population of patients with clinical FA.
Using a supervised learning approach, we discovered a DNAm signature of 96 CpG sites that predict clinical outcomes. Diagnostic scores were derived from these 96 methylation sites, and cutoffs were determined in a sensitivity analysis. Methylation biomarkers outperformed allergen-specific IgE and skin prick tests for predicting OFC outcomes. FA status was correctly predicted in the replication cohort with an accuracy of 79.2%.
DNAm biomarkers with clinical utility for predicting food challenge outcomes are readily detectable in blood. The development of this technology in detailed follow-up studies will yield highly innovative diagnostic assays.
食物过敏(FA)的诊断具有挑战性,因为大约有一半的食物敏感患者无症状。目前的诊断测试是出色的致敏标志物,但对临床反应性的预测能力较差。因此,需要进行口服食物挑战(OFC)来确定患者的反应风险。
我们试图发现具有预测食物挑战结果的临床 FA 基因组生物标志物。
对接受过客观 OFC、同时进行皮肤点刺试验和特异性 IgE 检测的志愿者的单核细胞进行全基因组 DNA 甲基化(DNAm)谱分析。评估了 58 名食物敏感患者(年龄 11-15 个月),其中一半有临床反应。还评估了 13 名非过敏对照受试者。通过使用来自具有临床 FA 的患者的独立人群的甲基化数据,在另外 48 个样本中评估了重现性。
使用有监督学习方法,我们发现了 96 个 CpG 位点的 DNAm 特征,可预测临床结果。从这 96 个甲基化位点得出了诊断评分,并在敏感性分析中确定了截止值。与过敏原特异性 IgE 和皮肤点刺试验相比,甲基化生物标志物更能预测 OFC 结果。在复制队列中,FA 状态的正确预测率为 79.2%。
在血液中易于检测到具有预测食物挑战结果的临床实用性的 DNAm 生物标志物。在详细的随访研究中开发这项技术将产生高度创新的诊断检测方法。