Analysis of the Published Literature Regarding the Role of Filaggrin Mutations in Susceptibility to Atopic Dermatitis and Asthma.

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Abstract Background: Filaggrin (FLG) is a crucial protein in the skin barrier and has a vital role in maintaining the barrier homeostasis. Atopic dermatitis (AD) is a chronic skin disease that characterised by itchy dry skin with frequent infections. Asthma is a chronic respiratory allergic disease that involved airway, causing difficulty breathing. FLG mutations have a crucial role in increasing susceptibility of AD, particularly in children. Likewise, FLG mutations thought to affect asthma development with different spectrum according to risk factors. This review aims to identify the evidence from the available publications in the literature supporting the association of FLG loss of function mutations with AD and asthma. Methods: Firstly, an extensive PubMed search conducted using specific search terms and predefined criteria to retrieve population-based birth cohort studies conducted to analyse FLG mutations and AD susceptibility and comorbidities. In addition, the references from the search results scanned for additional studies on the field. Secondly, another PubMed search performed as well as MEDLINE, and EMBASE searched to identify the publications of all studies type that analysed FLG mutations and asthma susceptibility. Results: The extensive search of PubMed results were 16 and 10 population birth cohort studies in addition to 4 studies from further references search in which 20 studies selected. The second search revealed 26 asthma and FLG studies resulting in selecting 12 studies. The analysis of the included cohort studies concluded that FLG has a vital role in increasing the risk of having AD in early childhood and asthma progression with and without AD. Conclusion: AD and asthma risk increased in FLG mutations carriers. Further analysis of the FLG role in developing asthma in the absence of AD is needed. Key Words: Filaggrin mutation; birth cohort; atopic dermatitis; asthma; allergic sensitization

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