Background: Studies have shown that filaggrin gene (FLG) mutations are positively associated with sensitization to aero allergens. We hypothesized that FLG mutations would also have an effect on the mean size of positive skin prick test (SPT) reactions as well as the number of positive reactions.
Objective: To investigate the effect of FLG mutations on the mean size and the number of positive SPT reactions, as well as the association with positive specific IgE.
Methods: A random sample of 3335 adults from the general population in Denmark was genotyped for the R501X and 2282del4 mutations in the FLG. SPT and specific IgE measurements to common aeroallergens were also performed.
Results: FLG mutations did not influence the mean size and number of positive SPT reactions. Also, no association was found between FLG mutations and specific IgE measurements.
Conclusion: Our findings suggest that FLG mutations alone are insufficient to cause secondary sensitization to allergens. The positive association seen in patients must be explained by a combination of further barrier abnormality caused by dermatitis as well as increased allergen exposure.
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http://dx.doi.org/10.1111/j.1468-3083.2012.04679.x | DOI Listing |
Ann Allergy Asthma Immunol
January 2025
Children's Health Ireland (CHI) at Crumlin, Dublin D12 N512, Ireland. Electronic address:
Background: Loss-of-function FLG-mutation (FLGmut) carriers are at increased risk of developing atopic dermatitis (AD), characterized by earlier onset and more severe disease. AD is driven by a complex interplay between skin barrier function, Th2 and Th2 dominant immune dysregulation and dysbiosis. Results from the STOP AD study suggest two early, initiating AD-pathogenetic pathways; a FLGmut-related skin barrier deficiency pathway, and an immune function-related inflammatory pathway.
View Article and Find Full Text PDFJ Cutan Pathol
January 2025
Program in Dermatopathology, Department of Pathology, Brigham and Women's Hospital/Mass General Brigham, Boston, Massachusetts, USA.
The human body is composed mostly of water fortified by a variety of proteins, fats, carbohydrates, vitamins, minerals, and other nutrients, all organized into an elegant structurally complex and functionally efficient machine in which our consciousness resides. This heterogeneous assemblage of essential ingredients is enclosed in a container known as the integument, or simply, the skin. The container is as important as its contents; when itself devoid of structural and functional integrity, it will both leak as well as become infused with potentially harmful external agents.
View Article and Find Full Text PDFBiomolecules
November 2024
Laboratory of Animal Research Center (LARC), Qatar University, Doha 2713, Qatar.
Atopic dermatitis (AD) is a chronic inflammatory skin disease with rising prevalence, marked by eczematous lesions, itching, and a weakened skin barrier often tied to filaggrin gene mutations. This breakdown allows allergen and microbe entry, with thymic stromal lymphopoietin (TSLP) playing a crucial role by activating immune pathways that amplify the allergic response. TSLP's central role in AD pathogenesis makes it a promising therapeutic target.
View Article and Find Full Text PDFInt J Biol Macromol
November 2024
Department of Cell Biology, Jinan University, Guangzhou 510632, China; State Key Laboratory of Bioactive Molecules and Druggability Assessment, Jinan University, Guangzhou 510632, China; National Engineering Research Center of Genetic Medicine, Guangzhou 510632, China; Guangdong Province Key Laboratory of Bioengineering Medicine, Guangzhou 510632, China. Electronic address:
The integrity of the skin barrier is essential for maintaining skin health, with the stratum corneum and filaggrin 2 (FLG-2) playing a key role. FLG-2 deficiency or mutation has been linked to diseases such as atopic dermatitis, while external stressors such as ultraviolet B (UVB) radiation further damage the epidermal barrier. This study investigated the effects of recombinant filaggrin (rFLG) on skin barrier function and UVB induced epidermal destruction.
View Article and Find Full Text PDFJ Pers Med
September 2024
Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand.
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