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

Lookup NU author(s): Dr Simon Meggitt, Professor Nick ReynoldsORCiD


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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. © 2006 The Society for Investigative Dermatology.

Publication metadata

Author(s): Barker JNWN, Palmer CNA, Zhao Y, Liao H, Hull PR, Lee SP, Allen MH, Meggitt SJ, Reynolds NJ, Trembath RC, McLean WHI

Publication type: Article

Publication status: Published

Journal: Journal of Investigative Dermatology

Year: 2007

Volume: 127

Issue: 3

Pages: 564-567

Print publication date: 01/03/2007

ISSN (print): 0022-202X

ISSN (electronic): 1523-1747

Publisher: Nature Publishing Group


DOI: 10.1038/sj.jid.5700587

PubMed id: 16990802


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Funder referenceFunder name
Wellcome Trust
G0700314Medical Research Council