Polymorphism of filaggrin gene in atopic dermatitis - Preliminary study

Introduction: Atopic dermatitis (AD) is a disease affecting about 15-20% of developed countries population. Studies have revealed that genetical factors are important in its ethiology, what suggests the compulsion of finding the mutations responsible for atopic dermatitis development. Aim of the study: The aim of this study was to analyze presence of R501X and 2282del4 mutations in the filaggrin gene among patients with AD diagnosis. We analyzed percantage of both mutations, taking into account an age, in which first symptoms appeared and gender. We noted possible association of mutations with asthma and allergic rhinitis occurring simultaneously with AD. Material and methods: The study included 43 patients with AD diagnosis. The test group has been characterized in terms of diseases course, beginning of first symptoms and occurrence of asthma and allergic rhinitis simultaneously with AD. In study we used a nucleic acid analysis methods, allowing for DNA isolation and then estimation of the incidence of mutations with using PCR-RFLP and separation of products in polyacrylamide gel. Results: In this study we detected no R501X mutation and seven patients had 2282del4 mutation. Detected mutation was more common in women than in men, its carriers showed severe or moderate AD phenotype and an early beginning of the disease. We found also an association of 2282del4 mutation with allergic rhinitis occurrence, there was no association for asthma. Conclusions: In our opinion an association between the occurrence of 2282del4 genetical variant and incidence of AD could be significant.