According to the literature, 80% of children with atopic dermatitis (AtD) have an aggravated family history. Genetic linkage of this disease is often revealed through the maternal lineage (60-70%), and less often through the paternal lineage (18-22%). The presence of AtD in both parents increases the risk of the pathology in children up to 60-80% [1], suggesting genetic predisposition to the disease. The implementation of molecular genetics technologies in medical practice facilitated expansion of knowledge about the etiology of AtD. The studies of several researchers point out the key role of the filaggrin-encoding gene in the development of AtD. Mutations in the filaggrin gene (FLG), which is known to be the major protein involved in differentiation of epidermal cells and implementing barrier function of epidermis, were identified. Objective. To evaluate the association of R501X and 2282del4 mutations in FLG gene with AtD in the Russian population. Material and methods. The study included 470 patients (31% males and 69% females) with AtD. Two groups were selected as controls. The first one involved 200 residents of the Octyabr'skiy district of Novosibirsk, including 62 men and 138 women aged 25-35 years (population sampling method); the second group involved 270 school students (31% boys and 69% girls). The genomic DNA was isolated from the venous blood using phenol-chloroform extraction. Genotyping was performed according to the previously published procedure. Results. The percentage of carriers of the allele with 2282del4 deletion in the group of AtD patients was higher than those in the control groups (12.8 and 3.8%, respectively, p=0.001). Odds ratio (OR) to detect a carrier with the deletion allele in the group of AtD patients was 3.7 times higher than those in the control groups (95% CI 2.1-6.3). No significant differences in the frequency of R501X mutation were observed between the examined groups. Conclusion. Carriage of 2282del4 deletion in the FLG gene significantly increases the risk of developing of AtD in the Russian population.
