Frequency analysis of the ACTN3 gene polymorphism in children with isolated or combined orthodontic pathology with allergic rhinitis

T. Ye. Shumna, O. V. Voznyi, T. P. Zinchenko, O. M. Kamyshnyi



Purpose. Determination and frequency analysis of the ACTN3 gene (actinin, alpha 3) rs1815739 polymorphism, responsible for metabolism, strength and speed of muscle movement, including the maxillofacial apparatus, in children with distal occlusion and allergic rhinitis.

Materials and Methods. To study the ACTN3 gene (rs1815739) polymorphism, the molecular and genetic study was conducted in 100 children aged 6 to 18 years. The 26 patients with distal bite and allergic rhinitis were included in the first study group; the second group consisted of 23 children with a distal bite; the third group included 30 children with allergic rhinitis and the fourth group was made up of 21 almost healthy children. All children did not have a statistically significant difference in sex and age. The molecular and genetic study was carried out in the Department of Molecular and Genetic Research of theTrainingMedicalLaboratoryCenter in the Department of Microbiology of theZaporizhiaStateMedicalUniversity, Zaporizhia. The obtained study results were analyzed using non-parametric methods of statistical analysis of the licensed software package «Statistica 6.1. RU». The population genetic analysis with the distribution of alleles and genotypes of the ACTN3 gene frequency is presented in accordance with the Hardy-Weinberg principle.

Results. Studying the distribution of allelic genes and genotypes of the ACN3 polymorphism (actinin, alpha 3) rs1815739 showed that among all examined children, the alpha actinin-3 protein was synthesized sufficiently in 36% of children with the homozygous C / C genotype, while in case of European population it was equal to 31%; and insufficiently - in 11% of those examined with the homozygous T / T genotype (in the European population - in 17.9%); in a smaller amount - in 53% of children with the heterozygous C / T genotype, which frequency corresponded to the European population (51.1%). The genotypes had the following distribution in the study groups: in children with a combination of allergic and orthodontic pathology; with distal bite; with allergic rhinitis and in healthy children, respectively: homozygous C / C genotype - 38.46%; 56.52%; 33.33%; 14.3%; homozygous T / T genotype - 11.5%; 8.7%; 6.67%; 19.05%; heterozygous C / T genotype – 50%; 34.78%; 60%; 66.67%. In children with distal bite, the homozygous C / C genotype (rs1815739) of the gene coding alpha-actinin-3 protein synthesis was associated with the odds ratio OR = 7.80, CI [1.79 - 34.07], while in children with heterozygous genotype C / T the odds of being healthy was OR = 3.75, СІ [1.08 – 13.07].

Conclusions. The dominant observation of the C / C genotype (rs1815739) of the gene coding alpha-actinin-3 protein synthesis in children with distal bite may indicate the role of muscle strength and their pressure on the dentition in the process of formation of children tooth-maxillary anomalies, which shall be taken into account when selecting individual treatment-and-preventive myogymnastics and apparatus treatment for such patients.


gene; polymorphism; alpha-actinin-3; distal bite; allergic rhinitis; children

Full Text:



VSN. V. (2017). The Prevention of Malocclusions. Journal of Dental Sciences, 2(4).

Brożek, J. L., Bousquet, J., Baena-Cagnani, C. E., Bonini, S., Canonica, G. W., Casale, T. B., van Wijk, R. G., Ohta, K., Zuberbier, T., & Schünemann, H. J. (2010). Allergic Rhinitis and its Impact on Asthma (ARIA) guidelines: 2010 Revision. Journal of Allergy and Clinical Immunology, 126(3), 466–476.

Flis, P.S. (2007). Ortodontiya, Vinnytsia, 312.

Hubskyi, Iu.I., Nizhenkovska, I.V., Korda, M.M. et al. (2016). Biolohichna i bioorhanichna khimiia, pidruchnyk. Kn. 2., K, 544.

Mandel, B.R. (2016). Osnovы sovremennoi henetyky: uch. Posobye dlia uchashchykhsia vыsshykh uchebnыkh zavedenyi, M, 334.

Rebrova, O.Yu. (2006). Statisticheskiy analiz meditsinskih dannyih. Primenenie paketa prikladnyih programm STATISTICA, M, 312.

National Center for Biotechnology information, dbSNP database.

Marshall, W. Hogarth, Peter, J. Houweling, Kristen, C. Thomas, Heather, Gordish-Dressman, Luca, Bello, Pegoraro, Elena, et. al. (2017). Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy. Nature Communications., 8. https://doi: 10.1038/ncomms14143.

Papadimitriou, I. D., Lockey, S. J., Voisin, S., Herbert, A. J., Garton, F., Houweling, P. J., Cieszczyk, P., Maciejewska-Skrendo, A., Sawczuk, M., Massidda, M., Calò, C. M., Astratenkova, I. V., Kouvatsi, A., Druzhevskaya, A. M., Jacques, M., Ahmetov, I. I., Stebbings, G. K., Heffernan, S., Day, S. H., … Eynon, N. (2018). No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes. BMC Genomics, 19.

Eynon, N., Ruiz, J. R., Oliveira, J., Duarte, J. A., Birk, R., & Lucia, A. (2011). Genes and elite athletes: a roadmap for future research. The Journal of Physiology, 589(13), 3063–3070.

Del Coso, J., Valero, M., Salinero, J. J., Lara, B., Gallo-Salazar, C., & Areces, F. (2017). Optimum polygenic profile to resist exertional rhabdomyolysis during a marathon. PLOS ONE, 12(3), e0172965.

Gineviciene, V., Jakaitiene, A., Aksenov, M., Aksenova, A., Druzhevskaya, A., Astratenkova, I., Egorova, E., Gabdrakhmanova, L., Tubelis, L., Kucinskas, V., & Utkus, A. (2016). Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes. Biology of Sport, 33(3), 199–206.

Pickering, C., & Kiely, J. (2017). ACTN3: More than Just a Gene for Speed. Frontiers in Physiology, 8.

Baumert, P., Lake, M. J., Stewart, C. E., Drust, B., & Erskine, R. M. (2016). Genetic variation and exercise-induced muscle damage: implications for athletic performance, injury and ageing. European Journal of Applied Physiology, 116(9), 1595–1625.

Jones, N., Kiely, J., Suraci, B., Collins, D., de Lorenzo, D., Pickering, C., & Grimaldi, K. (2016). A genetic-based algorithm for personalized resistance-training. Biology of Sport, 33(2), 117–126.

Min, S.-K., Lim, S.-T., & Kim, C.-S. (2016). Association of ACTN3 polymorphisms with BMD, and physical fitness of elderly women. Journal of Physical Therapy Science, 28(10), 2731–2736.

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 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