杭州浙大迪迅生物基因工程有限公司JACI：丝聚蛋白功能缺失突变与鸡蛋和牛奶过敏持续相关
发布日期：2023-01-11
原标题：丝聚蛋白功能缺失突变与鸡蛋和牛奶过敏持续相关
目的：这项研究测试了FLG LOF突变与多种食物过敏反应的相关性，并调查了它们对早期食物过敏持续性的潜在影响。
方法：这项研究招募了890名已经食物激发验证的食物过敏儿童参加德国食物过敏遗传学研究（GOFA）。684名儿童的纵向数据可用。所有儿童都具有临床特征，包括他们对特定食物的过敏反应，并对FLG中4种最常见的LOF突变（R501X、2282del4、R2447X和S3247X）进行基因分型。使用德国多中心过敏研究队列作为对照人群，通过逻辑回归分析FLG突变与食物过敏之间的关联。
结果：FLG突变与多种食物过敏相关，包括鸡蛋（HE）、牛奶（CM）、花生、榛子、鱼、大豆、腰果、核桃和芝麻，风险估计相似。调整湿疹状态后，效果仍然显著。有趣的是，FLG突变增加了HE和CM过敏持续病程的风险。
结论：这项研究表明FLG LOF突变会带来任何食物过敏的风险，而与湿疹无关。这些突变倾向于鸡蛋和牛奶过敏的持续性，应在评估耐受性发展时予以考虑。
原始出处
JACI
DOI: org/10.1016/j.jaci.2022.05.018
Abstract:
Background: A genetic defect in the epidermal barrier protein filaggrin (FLG) plays a major role in the etiology of eczema and associatedallergic airways diseases.However, it is still controversial to what extend loss-of-function (LOF)mutations in FLG contribute to the development and persistence of food allergies.
Objectives: This study tested association of FLG LOF mutations with allergic reactions to diverse foods and investigated their potential effect on the persistence of early food allergies.
Methods: This study recruited 890 children with challengeproven food allergy for the German Genetics of Food Allergy Study (GOFA). Longitudinal data were available for 684 children. All children were clinically characterized, including their allergic responses to specific foods, and genotyped for the 4 most common LOF mutations in FLG; R501X,2282del4,R2447X, and S3247X. Associations between FLG mutations and food allergies were analyzed by logistic regression using the German Multicenter Allergy Study cohort as the control population.
Results: FLG mutations were associated with allergies to diverse foods including hen’s egg (HE), cow’s milk (CM), peanut,hazelnut, fish, soy, cashew, walnut, and sesame with similar risk estimates. Effects remained significant after adjusting for the eczema status. Interestingly, FLG mutations increased the risk of a persistent course of HE and CM allergy.
Conclusions: Using the gold standard for food allergy diagnosis,this study demonstrates that FLG LOF mutations confer a risk of any food allergy independent of eczema. These mutations predispose to the persistence of HE and CM allergy and should be considered in the assessment of tolerance development.
First Author:
Birgit Kalb
Correspondence:
Max-Delbruck-Center, Robert-Rossle-Strasse 10, 13092 Berlin, Germany
2023-01-04 Article
——浙大迪迅译
背景：表皮屏障蛋白-丝聚蛋白（FLG）的遗传缺陷在湿疹和相关过敏性气道疾病的病因中起着重要作用。然而，FLG中的功能缺失（LOF）突变是否会导致食物过敏的发生和持续仍存在争议。目的：这项研究测试了FLG LOF突变与多种食物过敏反应的相关性，并调查了它们对早期食物过敏持续性的潜在影响。
方法：这项研究招募了890名已经食物激发验证的食物过敏儿童参加德国食物过敏遗传学研究（GOFA）。684名儿童的纵向数据可用。所有儿童都具有临床特征，包括他们对特定食物的过敏反应，并对FLG中4种最常见的LOF突变（R501X、2282del4、R2447X和S3247X）进行基因分型。使用德国多中心过敏研究队列作为对照人群，通过逻辑回归分析FLG突变与食物过敏之间的关联。
结果：FLG突变与多种食物过敏相关，包括鸡蛋（HE）、牛奶（CM）、花生、榛子、鱼、大豆、腰果、核桃和芝麻，风险估计相似。调整湿疹状态后，效果仍然显著。有趣的是，FLG突变增加了HE和CM过敏持续病程的风险。
结论：这项研究表明FLG LOF突变会带来任何食物过敏的风险，而与湿疹无关。这些突变倾向于鸡蛋和牛奶过敏的持续性，应在评估耐受性发展时予以考虑。
原始出处
JACI
[IF：14.290]
Filaggrin loss-of-functionmutations are associated with persistence of egg andmilk allergyDOI: org/10.1016/j.jaci.2022.05.018
Abstract:
Background: A genetic defect in the epidermal barrier protein filaggrin (FLG) plays a major role in the etiology of eczema and associatedallergic airways diseases.However, it is still controversial to what extend loss-of-function (LOF)mutations in FLG contribute to the development and persistence of food allergies.
Objectives: This study tested association of FLG LOF mutations with allergic reactions to diverse foods and investigated their potential effect on the persistence of early food allergies.
Methods: This study recruited 890 children with challengeproven food allergy for the German Genetics of Food Allergy Study (GOFA). Longitudinal data were available for 684 children. All children were clinically characterized, including their allergic responses to specific foods, and genotyped for the 4 most common LOF mutations in FLG; R501X,2282del4,R2447X, and S3247X. Associations between FLG mutations and food allergies were analyzed by logistic regression using the German Multicenter Allergy Study cohort as the control population.
Results: FLG mutations were associated with allergies to diverse foods including hen’s egg (HE), cow’s milk (CM), peanut,hazelnut, fish, soy, cashew, walnut, and sesame with similar risk estimates. Effects remained significant after adjusting for the eczema status. Interestingly, FLG mutations increased the risk of a persistent course of HE and CM allergy.
Conclusions: Using the gold standard for food allergy diagnosis,this study demonstrates that FLG LOF mutations confer a risk of any food allergy independent of eczema. These mutations predispose to the persistence of HE and CM allergy and should be considered in the assessment of tolerance development.
First Author:
Birgit Kalb
Correspondence:
Max-Delbruck-Center, Robert-Rossle-Strasse 10, 13092 Berlin, Germany
2023-01-04 Article
