Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations

Grainne M. O'Regan, Linda E. Campbell, Heather J. Cordell, Alan D. Irvine, W. H. Irwin McLean (Lead / Corresponding author), Sara J. Brown (Lead / Corresponding author)

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    Background: Atopic eczema is a common inflammatory skin disease with multifactorial etiology. The genetic basis is incompletely understood; however, loss of function mutations in the filaggrin gene (FLG) are the most significant and widely replicated genetic risk factor reported to date. The first genome-wide association study in atopic eczema recently identified 2 novel genetic variants in association with eczema susceptibility: a single nucleotide polymorphism on chromosome 11q13.5 (rs7927894) and a single nucleotide polymorphism (rs877776) within the gene encoding hornerin on chromosome 1q21.

    Objective: To test the association of these 2 novel variants with pediatric eczema and to investigate their interaction with FLG null mutations.

    Methods: Case-control study to investigate the association of rs7927894, rs877776 and the 4 most prevalent FLG null mutations with moderate-severe eczema in 511 Irish pediatric cases and 1000 Irish controls. Comprehensive testing for interaction between each of the loci was also performed.

    Results: The association between rs7927894 and atopic eczema was replicated in this population (P = .0025, chi(2) test; odds ratio, 1.27; 95% CI, 1.09-1.49). The 4 most common FLG null variants were strongly associated with atopic eczema (P = 1.26 x 10(-50); combined odds ratio, 5.81; 95% CI, 4.51-7.49). Interestingly, the rs7927894 association was independent of the well-established FLG risk alleles and may be multiplicative in its effect. There was no significant association between rs877776 and pediatric eczema in this study.

    Conclusion: Single nucleotide polymorphism rs7927894 appears to mark a genuine eczema susceptibility locus that will require further elucidation through fine mapping and functional analysis. (J Allergy Clin Immunol 2010;125:170-4.)

    Original languageEnglish
    Pages (from-to)170-174.e2
    Number of pages5
    JournalJournal of Allergy and Clinical Immunology
    Issue number1
    Publication statusPublished - Jan 2010


    • Allergy
    • Atopic dermatitis
    • Atopy
    • Inflammatory skin disease
    • Skin barrier
    • Of-function variants
    • Ichthyosis vulgaris
    • Disease
    • Risk
    • Skin
    • Identification
    • Polymorphisms
    • Metaanalysis
    • Expression


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