{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T02:14:13Z","timestamp":1768270453372,"version":"3.49.0"},"reference-count":20,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2011,2,7]]},"published-print":{"date-parts":[[2011]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The authors aimed to investigate the association between filaggrin null mutations, atopic dermatitis and diabetes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1136\/bmjopen-2011-000062","type":"journal-article","created":{"date-parts":[[2011,3,25]],"date-time":"2011-03-25T00:58:03Z","timestamp":1301014683000},"page":"e000062","source":"Crossref","is-referenced-by-count":37,"title":["A possible association between a dysfunctional skin barrier (filaggrin null-mutation status) and diabetes: a cross-sectional study"],"prefix":"10.1136","volume":"1","author":[{"given":"Jacob P","family":"Thyssen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan","family":"Linneberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berit 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