Objective: To study the R501X and 2282del4 mutations of the FLG gene in patients with atopic dermatitis (AD) in accordance with established standards of clinical and laboratory diagnostics. Methods: A retrospective study was conducted among children with atopic dermatitis. In 2024, a total of 42,917 visits for dermatovenereological diseases were registered at the Specialized Scientific-Practical Medical Center of Dermatovenereology and Cosmetology (Samarkand branch). Among these, atopic dermatitis in various clinical forms was diagnosed in 1,330 patients of different ages. For the analysis of the FLG gene (filaggrin gene), blood samples were collected from 100 patients. Results: In the course of the study, the R501X mutation of the FLG gene was not detected in any of the examined groups, including patients with atopic dermatitis (AD), patients with AD combined with obstructive bronchitis, as well as healthy children from the control group. The absence of this mutation in the observed groups may indicate population-specific patterns in the distribution of FLG gene variants, as well as potential ethnic differences in susceptibility to AD. Additionally, this may suggest that the R501X mutation plays a less significant role in the development of the disease in this population compared to the 2282del4 mutation. Among patients with AD and concurrent obstructive bronchitis, 7 individuals were found to carry the 2282del4 mutation, with 2 of them exhibiting the mutation in a homozygous state. Carriers of the 2282del4 FLG gene mutation were also identified among healthy children, highlighting the potential for disease manifestation in the future under the influence of triggering allergens. Conclusion: The obtained data indicate a potential association between the homozygous carriage of the DEL allele (DEL/DEL genotype) and the development of atopic dermatitis.
| Mualliflar | KHAMIDOVA Farida Muinovna, TOLIBOV Mansur Makhmudovich |
|---|---|
| Jurnal | Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali |
| Nashr sanasi | 2025-09-05 |
| Jild | 10 |
| Son | 3/2 |
| Til | O‘zbek |
атопический дерматит, бронхит, ген филаггрина, кожа, мутация, atopic dermatitis, bronchitis, filaggrin gene, skin, mutation, atopik dermatit, bronxit, Filaggrin geni, teri, mutatsiya
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