medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2023.09.3-18medgen-2359Research ArticleНАУЧНЫЙ ОБЗОРREVIEWРаспространенность вариантов гена филаггрина с потерей функций в различных странах и влияние их носительства на течение атопического дерматитаPrevalence of the filaggrin gene loss-of-function variants in different countries and the effect of their carriage on the course of atopic dermatitisКозловаИ. В.

107076, г. Москва, ул. Короленко, д. 3 стр. 6

ikozlova_work@inbox.ruЧикинВ. В.

107076, г. Москва, ул. Короленко, д. 3 стр. 6

КарамоваА. Э.

107076, г. Москва, ул. Короленко, д. 3 стр. 6

КубановА. А.

107076, г. Москва, ул. Короленко, д. 3 стр. 6

ФГБУ «Государственный научный центр дерматовенерологии и косметологии» Минздрава РоссииРоссияState Research Center of Dermatovenereology and Cosmetology of Ministry of Health of Russian FederationRussian Federation202307122023229318Copyright © Козлова И.В., Чикин В.В., Карамова А.Э., Кубанов А.А., 20232023Козлова И.В., Чикин В.В., Карамова А.Э., Кубанов А.А.Козлова И.В., Чикин В.В., Карамова А.Э., Кубанов А.А.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2359

Атопический дерматит – хроническое воспалительное мультифакториальное заболевание кожи, ведущую роль в развитии которого играют нарушения функций защитного барьера кожи и дисбаланс иммунной системы. Известно, что наличие вариантов с потерей функций в гене филаггрина, приводящих к образованию преждевременных стоп-кодонов и трансляции усеченной формы белка, является одним из основных факторов риска развития атопического дерматита. В обзоре литературы описано значение белка филаггрина в формировании эпидермального барьера и развитии иммунных реакций в коже. Представлены данные о частоте встречаемости вариантов филаггрина в популяции и у больных атопическим дерматитом в различных странах. Наиболее частые варианты с потерей функций у пациентов с атопическим дерматитом из Европы c.2282_2285del, c.1501C>T, c.9740C>A и c.7339C>T редко встречаются в азиатских странах, для которых характерны варианты c.3321del, c.5101C>T, c.7661C>G, c.8666_7CC>GA и c.9887C>A. На основании анализа результатов исследований случай-контроль, проведенных среди больных атопическим дерматитом из России, показано, что единственным вариантом, ассоциированным с заболеванием, является делеция c.2282_2285del, встречающаяся у 11,8–26,6% больных. Охарактеризовано влияние вариантов гена филаггрина на развитие и течение атопического дерматита – возраст начала и тяжесть течения болезни, особенности клинической картины, развитие сопутствующих аллергических и инфекционных заболеваний, влияние на эффективность терапии.

Atopic dermatitis is a chronic inflammatory multifactorial skin disease, the leading role in the development of which is played by dysfunctions of the skin protective barrier and imbalance of the immune system. It is known that the presence of loss-of-function variants in the filaggrin gene, leading to the formation of premature stop codons and translation of a truncated form of the protein, is one of the main risk factors for the development of atopic dermatitis. The literature review describes the importance of filaggrin protein in the formation of the epidermal barrier and the development of immune responses in the skin. Data on the frequency of filaggrin variants in the population and in patients with atopic dermatitis in different countries are presented. The most frequent loss- of-function variants among atopic dermatitis patients from Europe - c.2282_2285del, c.1501C>T, c.9740C>A and c.7339C>T - are rarely found in Asian countries, which are characterized by variants c.3321del, c.5101C>T, c.7661C>G, c.8666_7CC>GA and c.9887C>A. Based on the analysis of the results of case-control studies conducted among atopic dermatitis patients from Russia, it was shown that the only variant associated with the disease is the c.2282_2285del deletion, occurring in 11.8-26.6% of patients. The influence of filaggrin gene variants on the development and course of atopic dermatitis was characterized: age of onset and severity of the disease course, clinical features, development of concomitant allergic and infectious diseases, influence on the effectiveness of therapy.

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The authors declare that there are no conflicts of interest present.