New aspect of studying the mechanisms of development of the lungs ventilation capacity disorders in children with bronchial asthma

T. Ye. Shumna, O. S. Fedosieieva, O. M. Kamyshnyi



Purpose. Study of the pathogenetic role of the polymorphism of the ACTN3 gene (actinin, alpha 3) rs1815739 in the development of lungs ventilation capacity disorders in children with bronchial asthma.

Materials and methods. To study the polymorphism of ACTN3 gene (actinin, alpha 3) rs1815739, the molecular and genetic study of 90 children aged from 6 to 18 years with bronchial asthma, who were passing in-patient treatment at the Allergy Department of the Municipal Non-Profit Enterprise "Children's Hospital no.5" of Zaporizhia City Council, and 25 healthy children (control group) was conducted. The external respiration function was studied using a computer spirograph "PULMOREM" TU U 33.1-02066769-005-2002 (Kharkiv). The study of the polymorphism of the ACTN3 gene (actinin, alpha 3) rs1815739 was performed in the Division of Molecular Genetic Researches of the Training Medical Laboratory Center at the Department of Microbiology of Zaporizhia State Medical University in Zaporizhia on the CFX96TM Real-Time PCR Detection Systems amplifier (Bio-Rad laboratories Inc., USA) with extraction of DNA from venous blood by means of polymerase-chain reaction. The results of the study were processed using statistical analysis of the license software package Statistica for Windows 6.1.RU, serial number AXXR712D833214SAN5.

Results. The study of the distribution of allelic genes and genotypes of ACTN3 (actinin, alpha 3) polymorphism for rs1815739 showed that among children with bronchial asthma, the homozygous C/C genotype was recorded in 37.7% of cases, heterozygous C/T genotype in 40% of cases, homozygous T/T genotype in 22.3% of cases, while in healthy children, the frequencies of the homozygous C/C (68%) and T/T (4%) genotypes were significantly more frequent. The indicators of external respiration function (forced vital capacity (FVC), forced expiratory volume at the 1-second (FEV1)) in patients with a homozygous C/C genotype were significantly lower than in patients with homozygous T/T genotype and were 2.69 (1.9; 3.49) vs. 3.11 (2.47; 4, 14) and 2.06 (1.6; 2.76) vs. 2.82 (2.02; 3.51). The patency of large and small bronchi, characterized by spirographic MEF25 and MEF75 indicators, was significantly better in children with bronchial asthma with homozygous T/T genotype than in children with C/T and C/C genotypes (5.46 (4.87; 6, 31) and 2.36 (1.89; 3.32) against 4.54 (3.69; 5.43) and 4. 17 (3.24; 5.44), and 1.88 (1.10; 2.56) and 1.69 (1.16; 2.02), respectively. In children with bronchial asthma and the C/C and C/T genotypes of ACTN3 gene (actinin, alpha 3) rs1815739 with probable sufficient synthesis of alpha-actinin-3 protein in muscles, a stronger contraction of the respiratory muscles on inhalation is possible, and in patients with the T/T genotype, which encodes insufficient synthesis of alpha-actinin-3 protein in the muscles, the muscle contraction is probably less pronounced in asthma attacks, which can lead to less pronounced disorders of lungs ventilation capacity.

Conclusions. The study of ACTN3 (actinin, alpha 3) rs1815739 gene polymorphism showed that the C / C and C / T genotypes were associated with impaired lung ventilation in children with bronchial asthma.


gene; polymorphism; alpha-actinin-3; bronchial asthma; lungs ventilation capacity; children

Full Text:



Volosovets, A.P., Krivopustov, S.P., Makuha, N.T., Kupkina A.V. (2016) Features of Bronchial Asthma in Children with Overweight and Obesity. CHILD`S HEALTH, 8 (68), 51-55.

Chumachenko, N.G. (2016) Clinical and Anamnestic Features of Bronchial Asthma in Children from an Ecologically Unfavorable Region, Perinatologiya i pediatriya, 3 (67), 98-101. 10.15574 / PP.2016.67.98

Drannik, G. N. (2006) Clinical immunology and allergology: a manual for students, interns, immunologists, allergologists, medical doctors of all specialties, M, 552.

Global Strategy for Asthma Management and Prevention. Revised 2019 [Electronic resource] /National institutes of health. National Heart, lung and Blood Institute. Revised 2019 Access mode: — Title from screen.

Sokolenko, V.N., Vesnina, L.E., Zhukova, M.Yu., Mishchenko, I.V., Tkachenko, O.V. (2019). Physiology of the respiratory system, Poltava, 160.

Okhotnikova, E.N., Sharikadze E.V. (2015) Bronchial asthma and allergic rhinitis in children under 6 years of age: features of the treatment of comorbid pathology, Perinatologiya i pediatriya, 7 (71), 111-116. 10.15574 / SP.2015.71.111

Pertseva, T.A., Konopkina, L.I. (2008) Fundamentals of the study of ventilation function of the lungs: clinical diagnostic value,Toolkit for doctors and students of medical universities, Dnepr, 66.

Zhang, Q., Cao Y., Chen J., Shen J., Ke, D., Wang X., Ji, J., Xu, Y., Zhang, W., Shen, Y., Wang, D., Pan, D., Wang, Z., Shi, Y., Cheng, S., Zhao, Y., Lu, D. (2019) ACTN3 Is Associated With Children's Physical Fitness in Han Chinese, Mol Genet Genomics, 294 (1), 47-56.

Lavoie, T. L., Dowell, M. L., Lakser, O. J., Gerthoffer, W. T., Fredberg, J. J., Seow, C.Y., Mitchell, R.W., Solway, J. (2009) Disrupting Actin-Myosin-Actin Connectivity in Airway Smooth Muscle as a Treatment for Asthma?.Proc Am ThoracSoc, 6 (3), 295–300. https://doi: 10.1513/pats.200808-078RM

Gransee, H.M., Mantilla, C.B., Sieck, G.C. (2012) Respiratory Muscle Plasticity. Compr Physiol, 2(2), 1441–1462. 10.1002/cphy.c110050

Pickering, C., Kiely, J. (2017) ACTN3: More than Just a Gene for Speed. Front. Physiol, 18 December.

Tharabenjasin, P., Pabalan, N., Jarjanazi, H. (2020) Association of the ACTN3 R577X (Rs1815739) Polymorphism with Elite Power Sports: A Meta-Analysis, PLOS ONE, 30May, 20.

Yvert, T., Santiago, C., Santana-Sosa, E., Verde, Z., MezGallego, F.G., Lopez-Mojares, L., Prez, M. (2015) Polymorphisms in Children with Cystic Fibrosis, Pediatric Exercise Science, 27, 102-112.

Sorokina, E.Yu., Keshabyants, E.E., Denisova, N.N. (2019) Тhe Study of Association of Gene Polymorphism with Sports Success and Risk of Alimentary-Dependent Diseases in Athletes Representing Cyclic Sports.Sports Medicine: Science and Practice, 9 (3), 41 - 48.

Chen, W., Zhang, B., Li, Y., Liang, T. (2020) Association Between rs1815739 Polymorphism of ACTN3 Gene and Athletic Ability in Chinese Sprinters, Journal of Science in Sport and Exercise, 2, 113–119.

Houweling, P.J., Papadimitriou, I.D., Seto, J.T., Laura, M.P., Del Coso, J., North, K.N., Lucia, A., Eynon, N. (2018) Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease. Human Mutation Wiley Online Library. 1002/humu.23663

Article Metrics

Metrics Loading ...

Metrics powered by PLOS ALM

Journal of Education, Health and Sport formerly Journal of Health Sciences

Declaration on the original version.

Editors indicates that the main version of the magazine is to issue a "electronic".

The journal has had 5 points in Ministry of Science and Higher Education parametric evaluation. § 8. 2) and § 12. 1. 2) 22.02.2019.

1223 Journal of Education, Health and Sport eISSN 2391-8306 7

ISSN 2391-8306 formerly ISSN: 1429-9623 / 2300-665X

Archives 2011 - 2014

PBN 2011 - 2014

POL-index 2011 - 2014

BASE 2011 - 2014

Indexed in Bases, Bazy indeksacyjne: ERIH Plus, Worldcat, PBN/POL-Index, ICI Journals Master List, Directory of Open Access Journals (DOAJ), ZBD, Ulrich's periodicals, Google Scholar, Polska Bibliografia Lekarska, EuroPub database, NLM Catalog Result - NCBI, BASE, Russian Sciences Index, Arianta.

US NLM = 101679844

101679844 - NLM Catalog Result - NCBI

Find a library that holds this journal:


PBN Poland



Redaction, Publisher and Editorial Office

Publisher and Editorial Office
Department of Physical Culture,
Faculty of Earth Sciences and Spatial Management,
Nicolaus Copernicus University in Toruń, Poland
Address: Str. Lwowska 1, 87-100 Toruń, Poland

  Open Access ISSN 2391-8306 formerly ISSN: 1429-9623 / 2300-665X

The journal has been approved for inclusion in ERIH PLUS.

The ERIH PLUS listing of the journal is available at

Indexed in Index Copernicus Journals Master List.,p24782242,3.html

ICV 2019 = 100.00 ICV 2018 = 95.95 ICV 2017 = 91.30 ICV 2016 = 84.69 ICV 2015 = 93.34 ICV 2014 = 89.51 Standardized Value: 8.27 ICV 2013: 7.32 ICV 2012: 6.41 ICV 20115.48

RG Journal Impact: 0.18 *

*This value is calculated using ResearchGate data and is based on average citation counts from work published in this journal. The data used in the calculation may not be exhaustive.

RG Journal impact history

2020Available summer 2021
2018 / 20190.18

RG Journal impact over time

RG Journal impact

Indexed in Polish Scholarly Bibliography (PBN) (PBN Polska Bibliografia Naukowa) (

is a portal of the Polish Ministry of Science and Higher Education, collecting information on publications of Polish scientists and on Polish and foreign scholarly journals. Polish Scholarly Bibliograhpy is a part of POL-on - System of Information on Higher Education. It is operated by the Interdisciplinary Centre for Mathematical and Computational Modelling, University of Warsaw.

Indexed in Russian Sciences Index Российский индекс научного цитирования (РИНЦ)

Indexed in Arianta Polish scientific and professional electronic journals Aneta Drabek i Arkadiusz Pulikowski


Partnerzy platformy czasopism