Prevalence of the filaggrin gene loss-of-function variants in different countries and the effect of their carriage on the course of atopic dermatitis
https://doi.org/10.25557/2073-7998.2023.09.3-18
Abstract
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.
About the Authors
И. Козлова
State Research Center of Dermatovenereology and Cosmetology of Ministry of Health of Russian Federation
Russian Federation
Russian Federation
3, bld.6 Korolenko st., Moscow, 107076
В. Чикин
State Research Center of Dermatovenereology and Cosmetology of Ministry of Health of Russian Federation
Russian Federation
Russian Federation
3, bld.6 Korolenko st., Moscow, 107076
А. Карамова
State Research Center of Dermatovenereology and Cosmetology of Ministry of Health of Russian Federation
Russian Federation
Russian Federation
3, bld.6 Korolenko st., Moscow, 107076
А. Кубанов
State Research Center of Dermatovenereology and Cosmetology of Ministry of Health of Russian Federation
Russian Federation
Russian Federation
3, bld.6 Korolenko st., Moscow, 107076
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, , , Prevalence of the filaggrin gene loss-of-function variants in different countries and the effect of their carriage on the course of atopic dermatitis. Medical Genetics. 2023;22(9):3-18. (In Russ.) https://doi.org/10.25557/2073-7998.2023.09.3-18
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