TY - JOUR

T1 - Study of the Role of Genes Involved in the Metabolism of Histamine in the Development of Allergic Respiratory Diseases

AU - Савельева, Ольга Николаевна

AU - Карунас, Александра Станиславовна

AU - Бикташева, Альфия Римовна

AU - Власова, Ангелина Олеговна

AU - Хидиятова, Ирина Михайловна

AU - Эткина , Эсфирь Исааковна

AU - Хуснутдинова, Эльза Камилевна

PY - 2024/3/1

Y1 - 2024/3/1

N2 - Abstract: 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 allergic airway 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 the AOC1, HRH2, HRH3, ALDH7A1, ADCYAP1, HNMT, PSAP, and 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 airway diseases 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 airway diseases and asthma with concomitant allergic rhinitis in Russians. A significant increase in total IgE level was revealed in Russian patients with allergic airway diseases 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 allergic airway tract diseases in children.

AB - Abstract: 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 allergic airway 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 the AOC1, HRH2, HRH3, ALDH7A1, ADCYAP1, HNMT, PSAP, and 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 airway diseases 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 airway diseases and asthma with concomitant allergic rhinitis in Russians. A significant increase in total IgE level was revealed in Russian patients with allergic airway diseases 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 allergic airway tract diseases in children.

KW - allergic rhinitis

KW - bronchial asthma

KW - gene

KW - histamine

KW - polymorphic variant

UR - https://www.mendeley.com/catalogue/37841521-9237-35d5-a18b-d924e2111a4f/

U2 - 10.1134/s1022795424030128

DO - 10.1134/s1022795424030128

M3 - Article

VL - 60

SP - 352

EP - 359

JO - Russian Journal of Genetics

JF - Russian Journal of Genetics

SN - 1022-7954

IS - 3

ER -