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A possible association between a dysfunctional skin barrier (filaggrin null-mutation status) and diabetes: a cross-sectional study
  1. Jacob P Thyssen1,
  2. Allan Linneberg2,
  3. Berit C Carlsen1,
  4. Jeanne D Johansen1,
  5. Kåre Engkilde1,
  6. Torben Hansen3,4,
  7. Flemming Pociot5,
  8. Oluf Pedersen3,6,7,
  9. Michael Meldgaard8,
  10. Pal B Szecsi8,
  11. Steen Stender8,
  12. Torkil Menné1
  1. 1National Allergy Research Centre, Department of Dermato-Allergology, Copenhagen University Hospital Gentofte, Copenhagen, Denmark
  2. 2Research Centre for Prevention and Health, Glostrup Hospital, University of Copenhagen, Copenhagen, Denmark
  3. 3Hagedorn Research Institute and Steno Diabetes Center, Gentofte, Denmark
  4. 4Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark
  5. 5Department of Clinical Experimental Research, Glostrup Research Institute, Glostrup Hospital, University of Copenhagen, Copenhagen, Denmark
  6. 6Faculty of Health Science, University of Aarhus, Aarhus, Denmark
  7. 7Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark
  8. 8Department of Clinical Biochemistry, Copenhagen University Hospital Gentofte, Copenhagen, Denmark
  1. Correspondence to Dr Jacob Pontoppidan Thyssen; jacpth01{at}


Background Filaggrin proteins are located in the skin and prevent epidermal water loss and impede the entry of micro-organisms, allergens and chemicals. Filaggrin null mutations are strongly associated with ichthyosis vulgaris and atopic dermatitis.

Objective The authors aimed to investigate the association between filaggrin null mutations, atopic dermatitis and diabetes.

Design A random sample of 3335 adults from the general population in Denmark was filaggrin-genotyped for R501X and 2282del4 null-mutations and questioned about atopic dermatitis and diabetes. Furthermore, two independent study populations of patients with type 1 (n=104) or 2 (n=774) diabetes were genotyped.

Results In a crude data analysis, a positive association was detected between the filaggrin null genotype and, respectively, subjects from the general population who reported diabetes (p=0.04) and patients with established type 2 diabetes (p=0.073). Adjustment for age and gender resulted in significant associations for patients with type 2 diabetes (p=0.048) and subjects with self-reported diabetes (p=0.032).

Conclusions Adult Danes with a filaggrin null genotype had a significantly increased prevalence of self-reported diabetes. This finding was replicated when an independent sample of Danish patients with established type 2 diabetes was compared with control subjects from the general population.

  • Filaggrin
  • diabetes
  • atopic dermatitis
  • epidemiology
  • general population
  • dermatology
  • contact allergy
  • regulation
  • occupational dermatology
  • eczema
  • dermatological epidemiology
  • genetics
  • biochemistry
  • chemical pathology
  • myeloma
  • bleeding disorders and coagulopathies

This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: and

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  • Funding The Danish Board of Health, The Danish Environmental Protection Agency, The Copenhagen County Research Foundation, The Velux Foundation, Denmark and The Danish Scientific Research Council.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval Ethics approval was provided by the Ethical Committee of Copenhagen County (KA-20060011).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement Data will not be publically accessible. Interested individuals may contact the authors.

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