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Filaggrin gene variants and skin diseases
https://doi.org/10.25557/2073-7998.2026.05.3-9
Abstract
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.
Supporting agencies: The literature review was prepared within the framework of the state assignment FWNR-2024-0004.
About the Authors
S. A. Butkeyev
Research Institute of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
175/1 B. Bogatkova str., Novosibirsk 630089
A. A. Ivanova
Research Institute of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
175/1 B. Bogatkova str., Novosibirsk 630089
V. N. Maksimov
Research Institute of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
175/1 B. Bogatkova str., Novosibirsk 630089
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Review
For citations:
Butkeyev S.A., Ivanova A.A., Maksimov V.N. Filaggrin gene variants and skin diseases. Medical Genetics. 2026;25(5):3-9. (In Russ.) https://doi.org/10.25557/2073-7998.2026.05.3-9
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