Study of the role of genes involved in the metabolism of histamine in the development of allergic respiratory diseases

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The interaction of genetic, epigenetic and environmental factors underlies the pathogenesis of allergic diseases. Allergic rhinitis and atopic bronchial asthma are closely related and often concurrent respiratory allergic diseases. The chronic recurrent course of these diseases establishes the importance of further and more profound studies of the mechanisms underlying the development of these pathologies. Histamine is one of the most significant inflammatory mediators secreted during allergic reactions. The aim of the research was to study the role of polymorphic variants of AOC1, HRH2, HRH3, ALDH7A1, ADCYAP1, HNMT, PSAP, SCG3, genes involved in the histamine metabolism in the development of different endophenotypes of the allergic airway diseases in individuals living in the Republic of Bashkortostan. DNA samples of 358 individuals with allergic diseases of the respiratory tract of different ethnicity (Russians – 165, Tatars – 143, Bashkirs – 50) and 200 controls with unweighted heredity in allergic diseases (Russians – 75, Tatars – 83, Bashkirs – 42). Genotyping of polymorphic variants was performed by real-time PCR and PCR-RFLP analysis. It was revealed that the rs104979793*CC genotype and the rs104979793*C allele of the AOC1 gene were associated with allergic diseases of the respiratory tract and asthma with concomitant allergic rhinitis in Russians. A significant increase of total IgE level was revealed in Russian patients with allergic diseases of the respiratory tract with the rs1049793*CC genotype of the AOC1 gene compared to carriers of the rs1049793*CG and rs1049793*GG genotypes. The association of the C allele of the rs17525472 polymorphic variant localized near the SCG3 gene with allergic rhinitis in Russians was established. The results revealed that AOC1 and SCG3 genes involved in the metabolism of histamine are related to the development of different endophenotypes of airway diseases in children.

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作者简介

O. Savelieva

Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences; Ufa University of Science and Technology; Saint-Petersburg State University

编辑信件的主要联系方式.
Email: olyasavelie@yandex.ru
俄罗斯联邦, Ufa, 450054; Ufa, 450076; Saint-Petersburg, 199034

A. Karunas

Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences; Bashkir State Medical University; Saint-Petersburg State University

Email: carunas@list.ru
俄罗斯联邦, Ufa, 450054; Ufa, 450008; Saint-Petersburg, 199034

A. Biktasheva

Bashkir State Medical University

Email: olyasavelie@yandex.ru
俄罗斯联邦, Ufa, 450008

A. Vlasova

Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences

Email: olyasavelie@yandex.ru
俄罗斯联邦, Ufa, 450054

I. Khidiyatova

Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences; Ufa University of Science and Technology; Saint-Petersburg State University

Email: olyasavelie@yandex.ru
俄罗斯联邦, Ufa, 450054; Ufa, 450076; Saint-Petersburg, 199034

E. Etkina

Bashkir State Medical University

Email: olyasavelie@yandex.ru
俄罗斯联邦, Ufa, 450000

E. Khusnutdinova

Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences; Ufa University of Science and Technology; Saint-Petersburg State University

Email: olyasavelie@yandex.ru
俄罗斯联邦, Ufa, 450054; Ufa, 450076; Saint-Petersburg, 199034

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