ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2020.72.05ymj-715Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHАнализ ассоциаций полиморфных вариантов генов аминоксидазы 1 AOC1 и гистамин-N-метилтрансферазы HNMT с развитием бронхиальной астмы у детейAssociation analysis of amine oxidase 1 AOC1 and histamine-N-methyltransferase HNMT genes polymorphism with the development of asthma in childrenhttps://orcid.org/0000-0002-9690-1481СавельеваО. Н.SavelievaO. N.

Савельева Ольга Николаевна – аспирант

Savelieva Olga Nikolaevna – Post-graduate student

450076, Ufa, st. Zaki Validi, 32

olyasavelie@yandex.ruhttps://orcid.org/0000-0002-2570-0789КарунасА. С.KarunasA. S.

Карунас Александра Станиславовна – д.б.н., к.м.н., проф. РАО, и.о. зам. директора по научной работе;

проф.;

c.н.с.

Karunas Aleksandra Stanislavovna – Doctor of Biological Sciences, Candidate of Medical Sciences, Russian Academy of Education professor, Acting Director for science;

450054, Ufa, Pr. Oktyabrya, 71;

Professor of the Chair of Medical Genetics and Fundamental Medicine

450008, Ufa, ul. Lenina, 3;

Senior Researcher

ul. Universitetskaya embankment, 7/9; tel. +7 (347) 235-60-88

https://orcid.org/0000-0002-9344-828XФедороваЮ. Ю.FedorovaYu. Yu.

Федорова Юлия Юрьевна – к.б.н., н.с.;

н.с.

Fedorova Yuliya Yurievna – Candidate of Biological Sciences, Researcher

450054, Ufa, Pr. Oktyabrya, 71;

Researcher

ul. Universitetskaya embankment, 7/9; tel. +7(347) 235-60-88

fedorova-y@yandex.ruГатиятуллинР. Ф.GatiyatullinR. F.

Гатиятуллин Радик Фидагиевич – д.м.н., проф.

Gatiyatullin Radik Fidagievich - Doctor of Medical Sciences, Professor, Professor of the Chair of Hospital Pediatrics

450008, Ufa, ul. Lenina, 3

radikfidagi@mail.ruhttps://orcid.org/0000-0003-1371-7927ЭткинаЭ. И.EtkinaE. I.

Эткина Эсфирь Исааковна – д.м.н., проф., зав. Кафедрой

Etkina Esfir Isaakovna - Doctor of Medical Sciences, Professor, Head of the Chair of Childhood Disorders

450008, Ufa, ul. Lenina, 3

pedkaf@rambler.ruhttps://orcid.org/0000-0003-2987-3334ХуснутдиноваЭ. К.KhusnutdinovaE. K.

Хуснутдинова Эльза Камилевна – д.б.н., проф., член-кор. РАО, директор;

гл.н.с.

Khusnutdinova Elza Kamilevna - Doctor of Biological Sciences, Professor, Associate Member of the Academy of Education of Russian Federation, Director

450054, Ufa, Pr. Oktyabrya, 71;

Chief Researcher

ul. Universitetskaya embankment, 7/9

БашГУРоссияBashkir State UniversityRussian FederationИБГ Уфимского ФИЦ РАН; Башкирский ГМУ; СПбГУРоссияInstitute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences; Bashkir State Medical University; Saint-Petersburg State UniversityRussian FederationСПбГУ; ИБГ Уфимского ФИЦ РАНРоссияInstitute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences; Saint-Petersburg State UniversityRussian FederationБашкирский ГМУРоссияBashkir State Medical UniversityRussian FederationИБГ Уфимского ФИЦ РАН; СПбГУРоссияInstitute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences; Saint-Petersburg State UniversityRussian Federation202002062025042022Copyright © Савельева О.Н., Карунас А.С., Федорова Ю.Ю., Гатиятуллин Р.Ф., Эткина Э.И., Хуснутдинова Э.К., 20252025Савельева О.Н., Карунас А.С., Федорова Ю.Ю., Гатиятуллин Р.Ф., Эткина Э.И., Хуснутдинова Э.К.Savelieva O.N., Karunas A.S., Fedorova Y.Y., Gatiyatullin R.F., Etkina E.I., Khusnutdinova E.K.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/715

Проведена оценка значимости полиморфных вариантов генов аминоксидазы AOC1 и гистамин-N-метилтрансферазы HNMT, участвующих в метаболизме гистамина, в прогнозировании риска развития бронхиальной астмы (БА) у детей, проживающих в Республике Башкортостан. Выявлены ассоциации генотипа rs1049793*СС и аллеля rs1049793*С гена AOC1 с развитием БА, со значительными снижениями показателей спирографии у детей русской этнической принадлежности. Установлены ассоциации генотипа rs1801105*СT и аллеляrs1801105*T гена HNMT со значительным снижением мгновенной объемной скорости при выдохе 25% у больных БА татарской этнической принадлежности. Результаты проведенного исследования свидетельствуют о роли полиморфных вариантов генов AOC1 и HNMT в развитии БА.

The significance of polymorphic variants of amino oxidase AOC1 and histamine-N-methyltransferase HNMT genes, involved in histamine metabolism, with predicting the risk of developing bronchial asthma (BA) in children living in the Republic of Bashkortostan was evaluated. Associations of the rs1049793 * CC genotype and the rs1049793 * C allele of the AOC1 gene with the development of ВА were revealed with significant reductions in spirography indices in children of Russian ethnicity. There were associations of the rs1801105 * CT genotype and the rs1801105 * T allele of the HNMT gene with a significant decrease in MEF25 in BA patients of Tatar ethnicity. The results of this study indicate the role of polymorphic variants of the AOC1 and HNMT genes in the development of BA.

бронхиальная астмаполиморфный вариантген аминоксидазы AOC1ген гистамин-N-метилтрансферазы HNMTbronchial asthmapolymorphic variantassociationamine oxidase gene AOC1gene of histamine-N-methyltransferase HNMTРабота выполнена в рамках государственного задания Минобрнауки РФ (№ АААА-А16-116020350032-1), проекта ФЦП № 05.621.21.0033 с использованием оборудования РЦКП «Агидель», при частичной поддержке грантов РФФИ (проект № 19- 315-90055) и Санкт-Петербургского государственного университета (ID гранта 60238366/ID проекта 60257092).The work was performed within the framework of the Ministry of Education and Science of the Russian Federation (№ AAAA-A16-116020350032-1), the FTP project № 05.621.21.0033 with the use of the equipment of the Regional center for collective use of unique equipment "Agidel", with partial support of the RFBR grants (project № 19-315-90055) and Saint Petersburg State University (grant ID 60238366/project ID 60257092).ReferencesКучер А.Н. Гены гистаминового метаболического пути и многофакторные заболевания человека / А.Н. Кучер, Н.А. Черевко // Генетика. – 2018. – Т. 54, № 10. – С. 15-32. DOI: 10.7868/S0016675818010083Kucher A.N. Genes of the Histamine Pathway and Common Diseases / A.N. Kucher, N.A. Cherevko // Russian Journal of Genetics. – 2018. – Vol. 54 (10). – P. 15-32. (in Russ.).] DOI: 10.7868/S0016675818010083Национальная программа «Бронхиальная астма у детей. Стратегия лечения и профилактика» / Под ред. А.Г. Чучалина. 5-е изд. - М: Оригинал-макет, 2017. - 160 с.National program "Bronchial asthma in children. Treatment strategy and prevention". Chuchalin A.G. (Ed.). 5th ed. M: Original maket. 2017. 160 s. (in Russ.).Association between two polymorphisms of histamine-metabolising enzymes and the severity of allergic rhinitis in a group of Mexican children / R. Meza-Velázquez, F. López-Márquez, S. Espinosa-Padilla [et al.] // Allergol. Immunopathol. (Madr). – 2016. – Vol. 44(5). – P. 433-8. DOI: 10.1016/j.aller.2016.01.002Association between two polymorphisms of histamine-metabolising enzymes and the severity of allergic rhinitis in a group of Mexican children / R. Meza-Velázquez, F. López-Márquez, S. Espinosa-Padilla [et al.] // Allergol. Immunopathol. (Madr). – 2016. – Vol. 44(5). – P. 433-8. DOI: 10.1016/j.aller.2016.01.002Genetic variation in the histamine production, response, and degradation pathway is associated with histamine pharmacodynamic response in children with asthma / B.L. Jones, C.M.T. Sherwin, X. Liu [et al.] // Front. Pharmacol. – 2017. – Vol. 7. – P. 524. DOI: 10.3389/fphar.2016.00524Genetic variation in the histamine production, response, and degradation pathway is associated with histamine pharmacodynamic response in children with asthma / B.L. Jones, C.M.T. Sherwin, X. Liu [et al.] // Front. Pharmacol. – 2017. – Vol. 7. – P. 524. DOI: 10.3389/fphar.2016.00524Genetic variation within the histamine pathway among patients with asthma / N. Raje, C.A. Vyhlidal, H. Dai [et al.] // J. Asthma. – 2015. – Vol. 52(4). – P. 353-362. DOI: 10.3109/02770903.2014.973501Genetic variation within the histamine pathway among patients with asthma / N. Raje, C.A. Vyhlidal, H. Dai [et al.] // J. Asthma. – 2015. – Vol. 52(4). – P. 353-362. DOI: 10.3109/02770903.2014.973501Global Initiative for Asthma. Global strategy for asthma management and prevention. Updated 2020. – P. 1-209.Global Initiative for Asthma. Global strategy for asthma management and prevention. Updated 2020. – P. 1-209.Polymorphisms of histamine-metabolizing enzymes and clinical manifestations of asthma and allergic rhinitis / E. García-Martín, J. García-Menaya, B. Sánchez [et al.] // Clin. Exp. Allergy. – 2007. – Vol. 37(8). –P. 1175-1182. DOI: 10.1111/j.1365-2222.2007.02769.xPolymorphisms of histamine-metabolizing enzymes and clinical manifestations of asthma and allergic rhinitis / E. García-Martín, J. García-Menaya, B. Sánchez [et al.] // Clin. Exp. Allergy. – 2007. – Vol. 37(8). –P. 1175-1182. DOI: 10.1111/j.1365-2222.2007.02769.xPolymorphisms of two histamine-metabolizing enzymes genes and childhood allergic asthma: a case control study / A. Szczepankiewicz, A. Breborowicz, P. Sobkowiak [et al.] // Clin. Mol. Allergy. – 2010. – Vol. 8. – P. 14. DOI: 10.1186/1476-7961-8-14Polymorphisms of two histamine-metabolizing enzymes genes and childhood allergic asthma: a case control study / A. Szczepankiewicz, A. Breborowicz, P. Sobkowiak [et al.] // Clin. Mol. Allergy. – 2010. – Vol. 8. – P. 14. DOI: 10.1186/1476-7961-8-14

The authors declare that there are no conflicts of interest present.