Filaggrin loss‐of‐function mutations, atopic dermatitis and risk of actinic keratosis: results from two cross‐sectional studies
Background Common loss‐of‐function mutations in filaggrin gene (FLG) represent a strong genetic risk factor for atopic dermatitis (AD). Homozygous mutation carriers typically display ichthyosis vulgaris (IV) and many have concomitant AD. Previously, homozygous, but not heterozygous, filaggrin gene m...
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Published in | Journal of the European Academy of Dermatology and Venereology Vol. 31; no. 6; pp. 1038 - 1043 |
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Main Authors | , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
England
01.06.2017
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Subjects | |
Online Access | Get full text |
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Summary: | Background
Common loss‐of‐function mutations in filaggrin gene (FLG) represent a strong genetic risk factor for atopic dermatitis (AD). Homozygous mutation carriers typically display ichthyosis vulgaris (IV) and many have concomitant AD. Previously, homozygous, but not heterozygous, filaggrin gene mutations have been associated with squamous cell carcinomas.
Objective
The first objective was to examine the association between FLG mutations and actinic keratosis (AK). The second objective was to investigate the occurrence of AK in patients with IV and AD, respectively.
Methods
FLG mutation status in patients with AK was compared with controls from the general population. Furthermore, based on nationwide data from Danish registers, we compared the risk of AK in patients with IV, AD and psoriasis, respectively.
Results
The prevalence of homozygous FLG mutations was significantly higher in the AK group (n = 4, 0.8%) in comparison with the control group (n = 18, 0.2%), whereas the prevalence of heterozygous FLG mutations was lower. In hospital registry data, patients with AD exhibited an increased risk of AK than did psoriasis controls (adjusted OR 1.46; [95% CI 1.12–1.90]), whereas no difference in risk was observed between patients with IV and AD.
Conclusions
This study indicates an increased susceptibility to AK in individuals with homozygous, but not heterozygous, FLG mutations and in patients with AD compared to psoriasis. Whether a reduction or absence of epidermal filaggrin could contribute to the susceptibility to AK in patients with IV and AD is unknown and additional research is needed to further explore this relationship. |
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Bibliography: | Funding Sources The study was conducted in Copenhagen region, Denmark. The study was partially funded by a grant from the Lundbeck Foundation and the Aase and Ejner Danielsen's Foundation. Drs. Andersen and Thyssen are supported by an unrestricted research grant from the Lundbeck Foundation, and the study was partially funded by Aase and Ejner Danielsen's Foundation. Dr. Thyssen has served on an advisory board for Roche and Sanofi‐Genzyme and received speaker's honorarium from LEO Pharma. Dr. Skov has performed clinical trial for Regeneron and is supported by a grant from the Capital Region of Denmark, Foundation for Health Research. Dr. Egeberg has received research funding and/or consultancy honoraria from Pfizer and Eli Lilly, and honoraria as consultant and/or speaker from Pfizer, Eli Lilly, Novartis, Galderma and Janssen Pharmaceuticals. Dr. Gislason is supported by an unrestricted research scholarship from the Novo Nordisk Foundation. This research was performed independently through the authors’ academic university and hospital affiliations. The authors have no conflict of interest to declare. Declaration of interests ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0926-9959 1468-3083 |
DOI: | 10.1111/jdv.14172 |