Filaggrin loss-of-function mutations, atopic dermatitis and risk of actinic keratosis: results from two cross-sectional studies

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Filaggrin loss-of-function mutations, atopic dermatitis and risk of actinic keratosis : results from two cross-sectional studies. / Andersen, Y M F; Egeberg, A; Balslev, E; Jørgensen, C L T; Szecsi, P B; Stender, S; Kaae, J; Linneberg, A; Gislason, G; Skov, L; Elias, P M; Thyssen, J P.

In: Journal of the European Academy of Dermatology and Venereology, Vol. 31, No. 6, 06.2017, p. 1038-1043.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Andersen, YMF, Egeberg, A, Balslev, E, Jørgensen, CLT, Szecsi, PB, Stender, S, Kaae, J, Linneberg, A, Gislason, G, Skov, L, Elias, PM & Thyssen, JP 2017, 'Filaggrin loss-of-function mutations, atopic dermatitis and risk of actinic keratosis: results from two cross-sectional studies', Journal of the European Academy of Dermatology and Venereology, vol. 31, no. 6, pp. 1038-1043. https://doi.org/10.1111/jdv.14172

APA

Andersen, Y. M. F., Egeberg, A., Balslev, E., Jørgensen, C. L. T., Szecsi, P. B., Stender, S., ... Thyssen, J. P. (2017). Filaggrin loss-of-function mutations, atopic dermatitis and risk of actinic keratosis: results from two cross-sectional studies. Journal of the European Academy of Dermatology and Venereology, 31(6), 1038-1043. https://doi.org/10.1111/jdv.14172

Vancouver

Andersen YMF, Egeberg A, Balslev E, Jørgensen CLT, Szecsi PB, Stender S et al. Filaggrin loss-of-function mutations, atopic dermatitis and risk of actinic keratosis: results from two cross-sectional studies. Journal of the European Academy of Dermatology and Venereology. 2017 Jun;31(6):1038-1043. https://doi.org/10.1111/jdv.14172

Author

Andersen, Y M F ; Egeberg, A ; Balslev, E ; Jørgensen, C L T ; Szecsi, P B ; Stender, S ; Kaae, J ; Linneberg, A ; Gislason, G ; Skov, L ; Elias, P M ; Thyssen, J P. / Filaggrin loss-of-function mutations, atopic dermatitis and risk of actinic keratosis : results from two cross-sectional studies. In: Journal of the European Academy of Dermatology and Venereology. 2017 ; Vol. 31, No. 6. pp. 1038-1043.

Bibtex

@article{2c7f62d9f1ba463882c940e49c74ba12,
title = "Filaggrin loss-of-function mutations, atopic dermatitis and risk of actinic keratosis: results from two cross-sectional studies",
abstract = "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 to 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. This article is protected by copyright. All rights reserved.",
keywords = "Journal Article",
author = "Andersen, {Y M F} and A Egeberg and E Balslev and J{\o}rgensen, {C L T} and Szecsi, {P B} and S Stender and J Kaae and A Linneberg and G Gislason and L Skov and Elias, {P M} and Thyssen, {J P}",
note = "This article is protected by copyright. All rights reserved.",
year = "2017",
month = "6",
doi = "10.1111/jdv.14172",
language = "English",
volume = "31",
pages = "1038--1043",
journal = "Journal of the European Academy of Dermatology and Venereology",
issn = "0926-9959",
publisher = "Elsevier",
number = "6",

}

RIS

TY - JOUR

T1 - Filaggrin loss-of-function mutations, atopic dermatitis and risk of actinic keratosis

T2 - results from two cross-sectional studies

AU - Andersen, Y M F

AU - Egeberg, A

AU - Balslev, E

AU - Jørgensen, C L T

AU - Szecsi, P B

AU - Stender, S

AU - Kaae, J

AU - Linneberg, A

AU - Gislason, G

AU - Skov, L

AU - Elias, P M

AU - Thyssen, J P

N1 - This article is protected by copyright. All rights reserved.

PY - 2017/6

Y1 - 2017/6

N2 - 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 to 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. This article is protected by copyright. All rights reserved.

AB - 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 to 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. This article is protected by copyright. All rights reserved.

KW - Journal Article

U2 - 10.1111/jdv.14172

DO - 10.1111/jdv.14172

M3 - Journal article

C2 - 28213896

VL - 31

SP - 1038

EP - 1043

JO - Journal of the European Academy of Dermatology and Venereology

JF - Journal of the European Academy of Dermatology and Venereology

SN - 0926-9959

IS - 6

ER -

ID: 173510371