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Müller, Sebastian; Marenholz, Ingo; Lee, Young‐Ae; Sengler, Claudia; Zitnik, Simona Eva; Griffioen, Rupino W.; Meglio, Paolo; Wahn, Ulrich; Nickel, Renate

Association of Filaggrin loss‐of‐function‐mutations with atopic dermatitis and asthma in the Early Treatment of the Atopic Child (ETAC) population

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  • Media type: E-Article
  • Title: Association of Filaggrin loss‐of‐function‐mutations with atopic dermatitis and asthma in the Early Treatment of the Atopic Child (ETAC) population
  • Contributor: Müller, Sebastian; Marenholz, Ingo; Lee, Young‐Ae; Sengler, Claudia; Zitnik, Simona Eva; Griffioen, Rupino W.; Meglio, Paolo; Wahn, Ulrich; Nickel, Renate
  • imprint: Wiley, 2009
  • Published in: Pediatric Allergy and Immunology
  • Language: English
  • DOI: 10.1111/j.1399-3038.2008.00808.x
  • ISSN: 0905-6157; 1399-3038
  • Keywords: Immunology ; Immunology and Allergy ; Pediatrics, Perinatology and Child Health
  • Origination:
  • Footnote:
  • Description: <jats:p>Many candidate gene studies for atopic dermatitis (AD) and associated phenotypes have been conducted so far, but replication of significant results has been a major problem. Two loss of function polymorphisms <jats:italic>FLG R501X‐</jats:italic> and <jats:italic>2282del4,</jats:italic> in the <jats:italic>Filaggrin</jats:italic> (<jats:italic>FLG</jats:italic>) gene encoding for an epidermal barrier protein were recently identified. They were reported to be predisposing factors for AD and concomitant asthma. Several groups confirmed the initial results in independent populations. The aim of this study is to further investigate the importance of these <jats:italic>FLG</jats:italic> variants in the development of AD and subsequent asthma symptoms in pre‐school children, we investigated children and parents of the Early Treatment of the Atopic Child (ETAC)‐trial. We genotyped 496 children and 488 parents of the ETAC population for the two <jats:italic>FLG</jats:italic> variants, evaluating an association by family based analysis (transmission disequilibrium test). We found a highly significant association of the <jats:italic>FLG</jats:italic> null variants <jats:italic>R501X‐</jats:italic> and <jats:italic>2282del4</jats:italic> with AD (combined genotype p &lt; 0.0001) and asthma (combined genotype p &lt; 0.0001). The replication and its statistical significance underlines the importance of the <jats:italic>FLG</jats:italic> polymorphisms and the importance of the skin barrier function in the development of AD and subsequent asthma.</jats:p>