ANALYSIS OF R501X AND 2282DEL4 MUTATIONS IN THE FLG GENE IN CHILDREN WITH ATOPIC DERMATITIS IN SAMARKAND REGION
Keywords:
atopic dermatitis, bronchitis, filaggrin gene, skin, mutationAbstract
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.
References
Бутенко А.В., Ларина А.В., Сергеев Ю.В. Генетические факторы атопического дерматита у детей. Российский журнал кожных и венерических болезней. 2018;21(2):52-58. 1
Иванов И.И., Петрова Н.В. Генетические аспекты атопического дерматита. // Журнал дерматологии. 2022. – Т. 34. – С. 45-58. 2
Ласковая Е.А., Фролова О.В. Генетические аспекты атопического дерматита // Российский журнал кожных и венерических болезней. – 2020. – №6. – С. 25–30. 4
Левина Е.Н., Мартыненко А.В. Иммунопрофилактика у детей с атопическим дерматитом // Педиатрия. – 2021. – Т. 100, № 2. – С. 37–44. 5
Марков А.В., Соловьева Н.И., Баранов В.С. Перспективы генетического тестирования в дерматологии. Российский журнал кожных и венерических болезней. 2020;10(4):23–30. 6
Петров С.Н., Васильева О.Л. Генетические маркеры атопических заболеваний. // Медицинская генетика. 2021. – Т. 29. – С. 58-71. 7
Сидоров А.П., Козлова Т.М. Полиморфизм FLG и кожные заболевания. // Российский медицинский журнал. 2019. – Т. 47. – С. 23-36. 8
Brown S.J., McLean W.H.I. One remarkable molecule: Filaggrin // J Invest Dermatol. – 2012. – № 132(3). – С. 751-762. 10
Cabanillas B., Novak N. Atopic dermatitis and filaggrin. // Curr Opin Immunol. 2016; 42: 1-8. 12
Elias P.M., Wakefield J.S. Mechanisms of abnormal lamellar body secretion and the dysfunctional skin barrier in patients with atopic dermatitis. // J Allergy Clin Immunol. 2014; 134(4): 781-791. 13
Liu Y., Wang R. Filaggrin mutations and skin barrier dysfunction. // Journal of Allergy. 2020. – Vol. 18. – P. 67-79. 17
Marenholz I., Esparza-Gordillo J., Lee Y.A. The genetics of the skin barrier in eczema and allergic disease. Journal of Allergy and Clinical Immunology. 2016;139(6):1723-1736. 18
Novak N, Baurecht H, Schäfer T, et al. Loss-of-function mutations in the filaggrin gene and allergic contact sensitization to nickel. J Invest Dermatol. 2008;128(6):1430-1435. 20
Palmer C.N.A., Irvine A.D., Terron-Kwiatkowski A. et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis // Nat Genet. – 2006. – № 38(4). – С. 441-446. 21
Paternoster L., Standl M., Waage J. et al. Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis // Nat Genet. – 2015. – № 47(12). – С. 1449-1456. 24
Sicherer S.H., Sampson H.A. Food allergy: A review and update on epidemiology, pathogenesis, diagnosis, prevention, and management // J Allergy Clin Immunol. – 2018. – Vol. 141. – P. 41–58. 26
Weidinger S., O'Sullivan M. Filaggrin in atopic dermatitis: an update. Br J Dermatol. 2016;175(5):864-873. 33
Rizaev JA, Khazratov AI, Iordanishvili AK Morphofunctional characteristics of the mucous membrane of the masticatory apparatus in experimental carcinogenesis //Russian Journal of Dentistry. – 2021. – T. 25. – No. 3. – pp. 225-231.
Rizaev Zh. A., Nurmamatova K. Ch., Tukhtarov B. E. ORGANIZATION OF TREATMENT AND PREVENTIVE CARE FOR ALLERGIC DISEASES IN CHILDREN //BBK: 51.1 l0ya43 S-56 A-95. – P. 113.
Ziyadullaev SK et al. MARKER TNF α -308G/A IN PATIENTS WITH RELATIVE BLADDER CANCER //Oriental renaissance: Innovative, educational, natural and social sciences. – 2021. – T. 1. – No. 8. – pp. 926-932.
