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Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status
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Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status
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Journal Article
Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status
2020
Overview
The genetic background of Atopic Dermatitis (AD) with chronic pruritus is complex.
Filaggrin
(
FLG
) is an essential gene in the epidermal barrier formation s. Loss-of-function (LOF) variants in
FLG
associated with skin barrier dysfunction constitute the most well-known genetic risk factor for AD. In this study, we focused on the frequency and effect of
FLG
loss-of-function variants in association with self-reported age-of-onset of AD. The dataset consisted of 386 whole-genome sequencing (WGS) samples. We observe a significant association between
FLG
LOF status and age-of-onset, with earlier age of onset of AD observed in the
FLG
LOF carrier group (p-value 0.0003, Wilcoxon two-sample test). We first tested this on the two most prevalent
FLG
variants. Interestingly, the effect is even stronger when considering all detected
FLG
LOF variants. Having two or more
FLG
LOF variants associates with the onset of AD at 2 years of age. In this study, we have shown enrichment of rare variants in the EDC region in cases compared with controls. Age-of-onset analysis shows not only the effect of the
FLG
and likely EDC variants in terms of the heightened risk of AD, but foremost enables to predict early-onset, lending further credence to the penetrance and causative effect of the identified variants. Understanding the genetic background and risk of early-onset is suggestive of skin barrier dysfunction etiology of AD with chronic pruritus
Publisher
Nature Publishing Group UK,Nature Publishing Group
Subject
