Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood

Jonathan N.W.N. Barker, Colin N.A. Palmer, Yiwei Zhao, Haihui Liao, Peter R. Hull, Simon P. Lee, Michael H. Allen, Simon J. Meggitt, Nicholas J. Reynolds, Richard C. Trembath, W. H.Irwin McLean

    Research output: Contribution to journalArticlepeer-review

    235 Citations (Scopus)

    Abstract

    Atopic dermatitis (AD) is a common disease with a complex etiology in childhood and adult life. A significant proportion of childhood AD is transient, but in many cases it persists into adulthood. We have recently shown that null mutations in the filaggrin gene (FLG) are an important predisposing factor for childhood eczema and eczema-associated asthma, but persistence to adulthood has not been analyzed. Here we studied a cohort of adult patients with persistent AD, which had been present since early childhood. In this cohort, the combined allele frequency of the two common FLGnull variants was 0.270 (cf. population frequency 0.046). This represents an odds ratio of 7.7 with 95% confidence interval of 5.3-10.9 and a χ2 P-value of 1.7-53. Our data conclusively demonstrate that identification of FLGnull alleles is an indicator of a poor prognosis in AD, predisposing to a form of eczema that starts in early infancy and persists into adulthood. This study helps to further define the nature of the AD phenotype associated with FLG null alleles.

    Original languageEnglish
    Pages (from-to)564-567
    Number of pages4
    JournalJournal of Investigative Dermatology
    Volume127
    Issue number3
    DOIs
    Publication statusPublished - Mar 2007

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