The Value of Filaggrin Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients

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dc.contributor University of Helsinki, Institute for Molecular Medicine Finland en
dc.contributor University of Helsinki, Clinicum en
dc.contributor University of Helsinki, Department of Dermatology, Allergology and Venereology en
dc.contributor University of Helsinki, Department of Dermatology, Allergology and Venereology en
dc.contributor University of Helsinki, HUS Kliinisen genetiikan yksikkö en
dc.contributor University of Helsinki, Institute for Molecular Medicine Finland en
dc.contributor University of Helsinki, Department of Dermatology, Allergology and Venereology en
dc.contributor University of Helsinki, Institute for Molecular Medicine Finland en
dc.contributor University of Helsinki, Clinicum en
dc.contributor.author Luukkonen, Tiia Maria
dc.contributor.author Kiiski, Ville
dc.contributor.author Ahola, Maria
dc.contributor.author Mandelin, Johanna
dc.contributor.author Virtanen, Hannele
dc.contributor.author Pöyhönen, Minna Helena
dc.contributor.author Kivirikko, Sirpa
dc.contributor.author Surakka, Ida Liisa
dc.contributor.author Reitamo, Jorma Sakari
dc.contributor.author Palotie, Aarno Veikko
dc.contributor.author Heliövaara, Markku
dc.contributor.author Jakkula, Eveliina
dc.contributor.author Remitz, Anita
dc.date.accessioned 2017-06-07T11:42:01Z
dc.date.available 2017-06-07T11:42:01Z
dc.date.issued 2017
dc.identifier.citation Luukkonen , T M , Kiiski , V , Ahola , M , Mandelin , J , Virtanen , H , Pöyhönen , M H , Kivirikko , S , Surakka , I L , Reitamo , J S , Palotie , A V , Heliövaara , M , Jakkula , E & Remitz , A 2017 , ' The Value of Filaggrin Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients ' , Acta Dermato-Venereologica , vol. 97 , no. 4 , pp. 456-463 . https://doi.org/10.2340/00015555-2578 en
dc.identifier.issn 0001-5555
dc.identifier.other PURE: 79096002
dc.identifier.other PURE UUID: c69e7566-d985-4931-89d7-9d699af47154
dc.identifier.other Scopus: 85017200442
dc.identifier.other WOS: 000401127000007
dc.identifier.other ORCID: /0000-0003-2037-2744/work/46650059
dc.identifier.other ORCID: /0000-0002-2527-5874/work/97266507
dc.identifier.uri http://hdl.handle.net/10138/189055
dc.description.abstract The contribution of filaggrin null mutations to predicting atopic dermatitis (AD) treatment response is not clear, nor have such mutations been studied in the Finnish population. This study tested the association of the 4 most prevalent European FLG null mutations, the 2 Finnish enriched FLG null mutations, the FLG 12-repeat allele, and 50 additional epidermal barrier gene variants, with risk of AD, disease severity, clinical features, risk of other atopic diseases, age of onset, and treatment response in 501 patients with AD and 1710 controls. AD, early-onset AD, palmar hyperlinearity, and asthma showed significant associations with the combined FLG null genotype. Disease severity and treatment response were independent of patient FLG status. Carrier frequencies of R501X, 2282del4, and S3247X were notably lower in Finns compared with reported frequencies in other populations. This data confirms FLG mutations as risk factors for AD in Finns, but also, questions their feasibility as biomarkers in predicting treatment response. fi
dc.language.iso eng
dc.relation.ispartof Acta Dermato-Venereologica
dc.rights en
dc.subject 3121 General medicine, internal medicine and other clinical medicine en
dc.title The Value of Filaggrin Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients en
dc.title.alternative Filaggriinin nollamutaatioiden hyödyllisyys atopian hoitovasteen ennusteelle: Havaintotutkimus suomalaisissa potilaissa en
dc.type Article
dc.description.version Peer reviewed
dc.identifier.doi https://doi.org/10.2340/00015555-2578
dc.type.uri info:eu-repo/semantics/other
dc.type.uri info:eu-repo/semantics/publishedVersion
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