medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2026.05.3-9medgen-3449Research ArticleНАУЧНЫЙ ОБЗОРREVIEWВарианты гена филаггрина и заболевания кожиFilaggrin gene variants and skin diseasesБуткеевС. А.ButkeyevS. A.

30089, г. Новосибирск, ул. Б. Богаткова, д. 175/1

175/1 B. Bogatkova str., Novosibirsk 630089

semyonbutkeev@mail.ruИвановаА. А.IvanovaA. A.

30089, г. Новосибирск, ул. Б. Богаткова, д. 175/1

175/1 B. Bogatkova str., Novosibirsk 630089

МаксимовВ. Н.MaksimovV. N.

30089, г. Новосибирск, ул. Б. Богаткова, д. 175/1

175/1 B. Bogatkova str., Novosibirsk 630089

Научно-исследовательский институт терапии и профилактической медицины – филиал ФГБНУ «Федеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наук»РоссияResearch Institute of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of SciencesRussian Federation20260806202625539Copyright © Буткеев С.А., Иванова А.А., Максимов В.Н., 20262026Буткеев С.А., Иванова А.А., Максимов В.Н.Butkeyev S.A., Ivanova A.A., Maksimov V.N.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/3449

Многочисленные исследования распространённости и ассоциаций вариантов гена, кодирующего белок филаггрин, с болезнями кожи имеют противоречивые и неоднозначные результаты для различных популяций. Так, варианты R501X и 2282del4 распространены среди европейских пациентов с вульгарным ихтиозом (ВИ), но не обнаружены у пациентов с данным заболеванием из Саудовской Аравии. В то же время у мексиканских пациентов с ВИ вариант R501X наиболее распространён. Кроме того, вариант R501X и варианты R501X и 2282del4 в компаунд-гетерозиготном состоянии связаны с тяжестью атопического дерматита (АД) у индийских пациентов. Ещё один распространённый вариант, R2447X, встречался у российских и испанских пациентов с АД. Стоит отметить, что у российских пациентов с дерматозами вариант 2282del4, как правило, встречается наиболее часто. В ряде исследований у пациентов с ВИ и АД из стран Азии данные варианты не были выявлены. Некоторые авторы предполагают, что важное значение в развитии дерматозов могут иметь негенетические факторы. 

Numerous studies on the prevalence and associations of variants of the gene encoding the filaggrin protein with skin diseases have yielded conflicting and ambiguous results for different populations. For example, the R501X and 2282del4 variants are common among European patients with ichthyosis vulgaris (IV), but they have not been detected in Saudi Arabian patients with this disease. At the same time, the R501X variant is the most common among Mexican patients with IV. In addition, the R501X variant and the R501X and 2282del4 variants in the compound heterozygous state are associated with the severity of atopic dermatitis (AD) in Indian patients. Another common variant, R2447X, has been observed in Russian and Spanish patients with AD. It is worth noting that the 2282del4 variant is generally the most common in Russian patients with dermatoses. In a number of studies, these variants were not detected in patients with IV and AD from Asian countries. Some authors suggest that non-genetic factors may play an important role in the development of dermatoses.

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