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Analysis of the frequency of pathogenic variants in the FLG gene in populations of the Volga-Ural region according to the data of whole genome sequencing
https://doi.org/10.25557/2073-7998.2025.05.49-51
Abstract
The spectrum and frequency of filaggrin (FLG) gene variants were analyzed in indigenous Bashkir and Tatar populations of the VolgaUral region of Russia. Whole-genome sequencing identified 153 FLG variants, four of which are loss-of-function mutations (rs567795279, rs61816761, rs200519781, rs558269137). The c.2282_2285del (rs558269137) deletion in the FLG gene was found to be the most common variant in the studied populations. Previous studies have associated this deletion with the development of allergic diseases in individuals of Russian, Tatar, and Bashkir ethnicity.
Keywords
Supporting agencies: The work was carried out within the framework of the state assignment of the Ministry of Science and Higher Education of the Russian Federation (№ 1022040500074-9).
About the Authors
A. A. Akhmetshin
Institute of Biochemistry and Genetics – a separate structural division of the Ufa Federal Research Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
71, Pr. Oktyabrya, Ufa, 450054, Russian Federation
A. S. Karunas
Institute of Biochemistry and Genetics – a separate structural division of the Ufa Federal Research Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
71, Pr. Oktyabrya, Ufa, 450054, Russian Federation
I. M. Khidiyatova
Institute of Biochemistry and Genetics – a separate structural division of the Ufa Federal Research Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
71, Pr. Oktyabrya, Ufa, 450054, Russian Federation
N. N. Chekanov
Biotechnological Campus LLC
Russian Federation
Russian Federation
16/10, k. 16, Miklukho-Maklaya st., Moscow, 117437, Russian Federation
E. K. Khusnutdinova
Institute of Biochemistry and Genetics – a separate structural division of the Ufa Federal Research Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
71, Pr. Oktyabrya, Ufa, 450054, Russian Federation
References
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Review
For citations:
Akhmetshin A.A., Karunas A.S., Khidiyatova I.M., Chekanov N.N., Khusnutdinova E.K. Analysis of the frequency of pathogenic variants in the FLG gene in populations of the Volga-Ural region according to the data of whole genome sequencing. Medical Genetics. 2025;24(5):49-51. (In Russ.) https://doi.org/10.25557/2073-7998.2025.05.49-51
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