Filaggrin null mutations are associated with increased asthma severity in children and young adults

Colin N. A. Palmer, Tahmina Ismail, Simon P. Lee, Ana Terron-Kwiatkowski, Yiwei Zhao, Haihui Liao, Frances J. D. Smith, W. H. Irwin McLean, Somnath Mukhopadhyay

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    174 Citations (Scopus)


    Background: Filaggrin is a key protein involved in skin barrier function. Filaggrin (FLG) null mutations are important genetic predisposing factors for atopic disease. Objective: To study the role of FLG null alleles in the clinical phenotype in children and young adults with asthma. Methods: FLG mutations R501X and 2282del4 were assayed in 874 subjects 3 to 22 years old with asthma from Tayside. Lung function and disease severity were also studied. Results: The filaggrin mutations were significantly associated with greater disease severity for asthma. Independent of eczema, mean FEV1/forced vital capacity of FLG wild-type individuals differed from those carrying either FLG null allele (0.89 vs 0.86; P = .012). Individuals bearing FLG null alleles were more likely to be prescribed increased medication (?2 = 10.3; P = .001), with the homozygote null individuals having an odds ratio of 6.68 (95% CI, 1.7-27.0; P = .008) for being prescribed long-acting ß-agonists in addition to inhaled steroids. FLG null alleles were also associated with increased rescue medication use (P = .004). Individuals with asthma and with FLG null alleles were more likely to have eczema, and individuals with eczema tended to have more severe asthma; however, the association of FLG null alleles with all markers of asthma disease severity was similar in children with and without eczema. Conclusion: FLG mutations are associated not only with eczema-associated asthma susceptibility but also with asthma severity independent of eczema status. Clinical implications: FLG status influences controller and reliever medication requirements in children and young adults with asthma. © 2007 American Academy of Allergy, Asthma & Immunology.
    Original languageEnglish
    Pages (from-to)64-68
    Number of pages5
    JournalJournal of Allergy and Clinical Immunology
    Issue number1
    Publication statusPublished - Jul 2007


    • Adolescent
    • Adult
    • Asthma
    • Bronchodilator Agents
    • Child
    • Child, Preschool
    • Dermatitis, Atopic
    • Female
    • Forced Expiratory Volume
    • Humans
    • Intermediate Filament Proteins
    • Male
    • Mutation
    • Vital Capacity


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