Filaggrin loss-of-function mutations are associated with persistence of egg and milk allergy.

FLG GOFA Genetics of Food Allergy Study Persistence cow’s milk double-blind placebo-controlled food challenge eczema food allergy hen’s egg loss-of-function mutations

Journal

The Journal of allergy and clinical immunology
ISSN: 1097-6825
Titre abrégé: J Allergy Clin Immunol
Pays: United States
ID NLM: 1275002

Informations de publication

Date de publication:
11 2022
Historique:
received: 10 11 2021
revised: 12 04 2022
accepted: 04 05 2022
pubmed: 18 6 2022
medline: 9 11 2022
entrez: 17 6 2022
Statut: ppublish

Résumé

A genetic defect in the epidermal barrier protein filaggrin (FLG) plays a major role in the etiology of eczema and associated allergic 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. 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. This study recruited 890 children with challenge-proven 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. 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. 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.

Sections du résumé

BACKGROUND
A genetic defect in the epidermal barrier protein filaggrin (FLG) plays a major role in the etiology of eczema and associated allergic 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 challenge-proven 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.

Identifiants

pubmed: 35714843
pii: S0091-6749(22)00765-5
doi: 10.1016/j.jaci.2022.05.018
pii:
doi:

Substances chimiques

Filaggrin Proteins 0
Allergens 0
Intermediate Filament Proteins 0

Types de publication

Multicenter Study Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1125-1134

Informations de copyright

Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.

Auteurs

Birgit Kalb (B)

Max-Delbrück-Center for Molecular Medicine (MDC), Berlin, Germany; Clinic for Pediatric Allergy, Experimental and Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany; Department of Pediatric Respiratory Medicine, Immunology, and Critical Care Medicine, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Ingo Marenholz (I)

Max-Delbrück-Center for Molecular Medicine (MDC), Berlin, Germany; Clinic for Pediatric Allergy, Experimental and Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Alexander C S N Jeanrenaud (ACSN)

Max-Delbrück-Center for Molecular Medicine (MDC), Berlin, Germany; Clinic for Pediatric Allergy, Experimental and Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Lara Meixner (L)

Department of Pediatric Respiratory Medicine, Immunology, and Critical Care Medicine, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Aleix Arnau-Soler (A)

Max-Delbrück-Center for Molecular Medicine (MDC), Berlin, Germany; Clinic for Pediatric Allergy, Experimental and Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Oscar D Rosillo-Salazar (OD)

Max-Delbrück-Center for Molecular Medicine (MDC), Berlin, Germany; Clinic for Pediatric Allergy, Experimental and Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Ahla Ghauri (A)

Max-Delbrück-Center for Molecular Medicine (MDC), Berlin, Germany; Clinic for Pediatric Allergy, Experimental and Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Penelope Cibin (P)

Max-Delbrück-Center for Molecular Medicine (MDC), Berlin, Germany; Clinic for Pediatric Allergy, Experimental and Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Katharina Blümchen (K)

Department of Allergy, Pulmonology and Cystic Fibrosis, Children's Hospital, Goethe University, Frankfurt am Main, Germany.

Rupert Schlags (R)

Department of Pediatric Pneumology and Allergology, Wangen Hospital, Wangen, Germany.

Gesine Hansen (G)

Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.

Jürgen Seidenberg (J)

Department of Pediatric Pneumology and Allergology, Neonatology and Intensive Care, Medical Campus of University Oldenburg, Oldenburg, Germany.

Thomas Keil (T)

Institute of Social Medicine, Epidemiology and Health Economics, Charité-Universitätsmedizin Berlin, Berlin, Germany; Institute for Clinical Epidemiology and Biometry, University of Würzburg, Würzburg, Germany.

Susanne Lau (S)

Department of Pediatric Respiratory Medicine, Immunology, and Critical Care Medicine, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Bodo Niggemann (B)

Department of Pediatric Respiratory Medicine, Immunology, and Critical Care Medicine, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Kirsten Beyer (K)

Department of Pediatric Respiratory Medicine, Immunology, and Critical Care Medicine, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Young-Ae Lee (YA)

Max-Delbrück-Center for Molecular Medicine (MDC), Berlin, Germany; Clinic for Pediatric Allergy, Experimental and Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany. Electronic address: yolee@mdc-berlin.de.

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Classifications MeSH