title: The frequency of polymorphic variants of filaggrin gene and clinical atopic dermatitis.
abstract: BACKGROUND
  As far as pathogenesis of the atopic dermatitis (AD) is concerned, the roles of an impaired epidermal barrier and cornified cell envelope are widely emphasized.
  
  
  OBJECTIVE
  The assessment of mutations of the filaggrin gene and their connection with the clinical picture of AD as well as selected allergological and environmental indicators.
  
  
  METHODS
  105 patients with diagnosed AD on the basis of diagnostic criteria were included. For every patient of the examined group, quantitative determination of the total concentration of IgE and the concentration of IgE antibodies to selected allergens were examined. For all patients, studies were performed by means of analysis of two genomic gene variants of profilaggrin (FLG) - R501X and 2282del4.
  
  
  RESULTS
  Loss-of-function mutations in the filaggrin gene were shown in 12 (11.4%) patients in the examined group. All patients in the study group who developed one of the tested loss-of-function mutations in the filaggrin gene demonstrated an extrinsic, allergic form of atopic dermatitis. A significant association (p = 0.0002) between the presence of one of the tested loss-of-function mutations in the filaggrin gene and elevated levels of total concentration of immunoglobulin E was shown.
  
  
  CONCLUSIONS
  Patients with AD of null mutations in the filaggrin gene demonstrate a relationship with the total and specific concentration of immunoglobulin E, specifically higher concentrations of IgE against aeroallergens and alimentary allergens as well as elevated levels of total immunoglobulin E.
authors.affiliation: Chair and Clinical Department of Internal Medicine, Dermatology and Allergology in Zabrze, Silesian Medical University in Katowice, Poland.
authors.forename: Agata
authors.initials: A
authors.lastname: Filipowska-Grońska
authors.affiliation: Chair and Clinical Department of Internal Medicine, Dermatology and Allergology in Zabrze, Silesian Medical University in Katowice, Poland.
authors.forename: Maria
authors.initials: M
authors.lastname: Weryńska-Kalemba
authors.affiliation: Chair and Clinical Department of Internal Medicine, Dermatology and Allergology in Zabrze, Silesian Medical University in Katowice, Poland.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Bożek
authors.affiliation: Chair and Clinical Department of Internal Medicine, Dermatology and Allergology in Zabrze, Silesian Medical University in Katowice, Poland.
authors.forename: Barbara
authors.initials: B
authors.lastname: Filipowska
authors.affiliation: Department of Nuclear Medicine and Endocrine Oncology, Institute of Oncology, Gliwice Branch, Poland.
authors.forename: Jadwiga
authors.initials: J
authors.lastname: Żebracka-Gala
authors.affiliation: Department of Nuclear Medicine and Endocrine Oncology, Institute of Oncology, Gliwice Branch, Poland.
authors.forename: Dagmara
authors.initials: D
authors.lastname: Rusinek
authors.affiliation: Department of Nuclear Medicine and Endocrine Oncology, Institute of Oncology, Gliwice Branch, Poland.
authors.forename: Dorota
authors.initials: D
authors.lastname: Kula
authors.affiliation: Chair and Clinical Department of Internal Medicine, Dermatology and Allergology in Zabrze, Silesian Medical University in Katowice, Poland.
authors.forename: Jerzy
authors.initials: J
authors.lastname: Jarząb
keywords: atopic dermatitis; filaggrin; mutation; skin barrier