The role of genetic polymorphism of the filaggrin protein with atopic march progression in children

Abstract

The aim of the study. To determine the role of genetic polymorphism in the filaggrin gene R501XAA and 2282de4AA at atopic march progression in children. Materials and methods. 111 children aged 3 to 12 years with atopic dermatitis were selected and examined. As a result of genetic testing, it was found that 51 children with atopic dermatitis had polymorphism in the filaggrin gene. These patients were included in the main group. Another 60 children without polymorphism were in the control group. The filaggrin gene polymorphism was determined by examining the buccal epithelium by Dellaporta method. Sensitization to allergens was established on the basis of the specific IgE level. The impact of the disease on the quality of life of children was performed using the CDLQI questionnaire (Children's Dermatology Life Quality Index). Results. In the course of molecular genetics research, R501X mutation was detected in 40 ((78.4 ± 5.76)%) children, 2282del4 polymorphism – in 4 ((7.8 ± 3.76)%) patients, and their combined variant R501X + 2282del4 – in 7 (13%), (7 ± 4.81)% patients. When determining the effect of filaggrin polymorphism on the clinical course of atopic dermatitis, the presence of the associative relationship was established with the following indicators: the early onset of the disease – χ2 = 33.2, mostly severe course – χ2 = 16.2, severe skin dryness – χ2 = 22.6, predominant sensitization to fungi – χ2 = 10.6 and house dust mites – χ2 = 12.2, violation of the skin microbiome – χ2 = 7.8. Conclusions. Early manifestation of atopic dermatitis in children is associated with the filaggrin protein gene polymorphism ((82.4 ± 5.33)%), which determines the risk of progression of the atopic march and the development of bronchial asthma in (38.0 ± 6.8)% of children. Keywords: children, atopic dermatitis, bronchial asthma, filaggrin.