title: Loss-of-function variants of the filaggrin gene are associated with clinical reactivity to foods.
abstract: The aim of this study was to assess the genetic association of Filaggrin loss-of-function (FLG LOF) genetic variants with food allergy, and to investigate the added value of this test in diagnosing food allergy. Clinical reactivity to foods was diagnosed by the gold standard, the double-blind, placebo-controlled food challenge. Of 155 children, 33 (21.3%) children had at least one FLG LOF variant, and of these, 29 (87.9%) were clinically reactive to at least one food, compared to 73 of 122 children (59.8%) carrying wild-type alleles. The odds ratio for having at least one FLG LOF variant and clinical reactivity to at least one food was 4.9 (CI = 1.6-14.7, P = 0.005), corresponding to a relative risk of 1.5, compared to carriers of wild-type alleles. Prediction of food allergy improved when FLG LOF variants were included in the model. Therefore, genetic markers may be useful as an addition to clinical assessment in the diagnosis of food allergy.
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Pediatric Pulmonology and Pediatric Allergology, Groningen, The Netherlands; University of Groningen, University Medical Center Groningen, GRIAC Research Institute, Groningen, The Netherlands.
authors.forename: C D
authors.initials: CD
authors.lastname: van Ginkel
authors.forename: B M J
authors.initials: BM
authors.lastname: Flokstra-de Blok
authors.forename: B J
authors.initials: BJ
authors.lastname: Kollen
authors.forename: J
authors.initials: J
authors.lastname: Kukler
authors.forename: G H
authors.initials: GH
authors.lastname: Koppelman
authors.forename: A E J
authors.initials: AE
authors.lastname: Dubois
mesh_terms: D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005260:Female; D000091344:Filaggrin Proteins; D005512:Food Hypersensitivity / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood / Q000276:immunology; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D016017:Odds Ratio; D015995:Prevalence; D012372:ROC Curve
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins; D007073:Immunoglobulin E
keywords: double-blind; food allergy; genetics; placebo-controlled food challenge; sensitization