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

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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

Title: The Value of Filaggrin Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients
Alternative title: Filaggriinin nollamutaatioiden hyödyllisyys atopian hoitovasteen ennusteelle: Havaintotutkimus suomalaisissa potilaissa
Author: Luukkonen, Tiia Maria; Kiiski, Ville; Ahola, Maria; Mandelin, Johanna; Virtanen, Hannele; Pöyhönen, Minna Helena; Kivirikko, Sirpa; Surakka, Ida Liisa; Reitamo, Jorma Sakari; Palotie, Aarno Veikko; Heliövaara, Markku; Jakkula, Eveliina; Remitz, Anita
Contributor organization: Institute for Molecular Medicine Finland
Clinicum
Department of Dermatology, Allergology and Venereology
HUS Inflammation Center
Genomics of Neurological and Neuropsychiatric Disorders
Date: 2017
Language: eng
Belongs to series: Acta Dermato-Venereologica
ISSN: 0001-5555
DOI: https://doi.org/10.2340/00015555-2578
URI: http://hdl.handle.net/10138/189055
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.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 1,710 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.
Subject: 3121 General medicine, internal medicine and other clinical medicine
Peer reviewed: Yes
Rights: unspecified
Usage restriction: openAccess
Self-archived version: publishedVersion


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