{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T14:41:26Z","timestamp":1767969686776,"version":"3.49.0"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,10,18]],"date-time":"2012-10-18T00:00:00Z","timestamp":1350518400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Immunogenetics"],"published-print":{"date-parts":[[2013,6]]},"abstract":"Summary<\/jats:title>Filaggrin gene (FLG<\/jats:styled-content><\/jats:italic>) null mutations are considered associated with atopic dermatitis. This study was conducted to determine the prevalence of FLG<\/jats:styled-content><\/jats:italic> null mutations R501X, 2282del4, R2447X and S3247X in the C<\/jats:styled-content>roatian population and their role in the occurrence of allergic diseases including atopic dermatitis, allergic rhinitis, asthma and allergic contact dermatitis (ACD<\/jats:styled-content>). Study enrolled 440 freshmen with defined allergic diseases by means of both present symptoms in I<\/jats:styled-content>nternational S<\/jats:styled-content>tudy of A<\/jats:styled-content>sthma and A<\/jats:styled-content>llergies in C<\/jats:styled-content>hildhood questionnaire (relevant respiratory and\/or skin symptoms) and markers of allergic sensitization (positive skin prick and\/or patch test). FLG<\/jats:styled-content><\/jats:italic> null mutations were successfully genotyped in 423 students of which 11 (2.6%) were carriers of FLG<\/jats:styled-content><\/jats:italic> null mutation: 1\/423 (0.2%) was heterozygous for R501X and 10\/423 (2.4%) were heterozygous for 2282del4. No carriers of R2447X and S3247X mutations were identified. In wild\u2010type FLG<\/jats:styled-content><\/jats:italic> carriers (412 subjects), atopic dermatitis was present in 45 (11%), allergic rhinitis in 70 (17%) and allergic asthma in 29 (7%) students. Twenty\u2010five of 393 (7%) patch\u2010tested wild\u2010type FLG<\/jats:styled-content><\/jats:italic> carriers had ACD<\/jats:styled-content>. Among 11 FLG<\/jats:styled-content><\/jats:italic> null mutation carriers, four had one or more allergic diseases, and five had reported skin symptoms without defined allergic sensitization (positive skin prick test and\/or patch test). FLG<\/jats:styled-content><\/jats:italic> null mutations were not confirmed as a predictor of analysed allergic diseases, but were confirmed as an independent predictor of skin symptoms (OR<\/jats:styled-content> 17.19, 95% CI<\/jats:styled-content> 3.41\u201386.6, P<\/jats:styled-content><\/jats:italic>\u00a0<\u00a00.001). Our results in general indicate a low frequency of FLG<\/jats:styled-content><\/jats:italic> null mutations in the studied Croatian population supporting a theory of a latitude\u2010dependent distribution of FGL<\/jats:styled-content><\/jats:italic> null mutations in E<\/jats:styled-content>urope, with a decreasing north\u2013south gradient of R501X and 2282del4 mutation frequency. The relation between FLG<\/jats:styled-content><\/jats:italic> null mutations and skin disorders was confirmed.<\/jats:p>","DOI":"10.1111\/iji.12006","type":"journal-article","created":{"date-parts":[[2012,10,18]],"date-time":"2012-10-18T19:24:59Z","timestamp":1350588299000},"page":"192-198","source":"Crossref","is-referenced-by-count":13,"title":["Low frequency of filaggrin null mutations in C<\/scp>roatia and their relation with allergic diseases"],"prefix":"10.1111","volume":"40","author":[{"given":"I.","family":"Saboli\u0107 Pipini\u0107","sequence":"first","affiliation":[{"name":"Occupational Health and Environmental Medicine Unit Institute for Medical Research and Occupational Health Zagreb Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V. 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