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

Tiia Maria Luukkonen, Ville Kiiski, Maria Ahola, Johanna Mandelin, Hannele Virtanen, Minna Helena Pöyhönen, Sirpa Kivirikko, Ida Liisa Surakka, Jorma Sakari Reitamo, Aarno Veikko Palotie, Markku Heliövaara, Eveliina Jakkula, Anita Remitz

Research output: Contribution to journalArticleScientificpeer-review


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.
Translated title of the contributionFilaggriinin nollamutaatioiden hyödyllisyys atopian hoitovasteen ennusteelle: Havaintotutkimus suomalaisissa potilaissa
Original languageEnglish
JournalActa Dermato-Venereologica
Issue number4
Pages (from-to)456-463
Publication statusPublished - 2017
MoE publication typeA1 Journal article-refereed

Fields of Science

  • 3121 General medicine, internal medicine and other clinical medicine

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