ANALYSIS OF THE DISTRIBUTION OF FICOLIN GENE POLYMORPHISMS (FCN2) IN CHILDREN WITH BRONCHIAL ASTHMA DIFFERENT SEVERITY



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Abstract

AbstractIntroduction. Asthma is one of the most common chronic diseases in all age groups. Asthma has heterogeneous phenotypes with different etiologies. Many parameters are used to classify asthma, for example, the severity and level of flow control. The asthma phenotype is dependent on the state of the immune system, and innate immunity plays an important role in the susceptibility and pathophysiology of asthma. The complement system (CS) consists of a complex of protective proteolytic enzymes (including lectins). Ficolin-2 (L-ficolin) is one of the main opsonizing molecules of respiratory secretions and a protein of the lectin pathway of CS activation. The polymorphisms in the L-ficolin gene affects the level of expression which may be associated with a higher susceptibility to infections and viruses, as well as a predisposition to asthma. Aim. To study the distribution of polymorphisms rs17549193 and rs7851696 of the L-ficolin (FCN2) gene in children with asthma of varying severity. Materials and methods. The Russian children from the Children's Allergy Center (Krasnoyarsk, Russia), aged from 8 to 18 years, were studied. Children with asthma were divided into groups depending on the severity of the disease in accordance with GINA-2023: mild (n=146) and severe (n=254). The comparison group includes children of comparable age and gender without asthma, allergies and infections. DNA extraction from blood was performed using the sorbent method. Genotyping of polymorphisms rs17549193 and rs7851696 FCN2 was performed by real-time polymerase chain reaction. Results. The results obtained provide distribution of the polymorphic variants FCN2 gene in the population of healthy Russian and in children with a socially and economically important disease – asthma. The distribution of rs17549193 and rs7851696 FCN2 corresponds to the global Caucasoid populations. There were no statistically significant differences between asthma patients with varying degrees of severity of the disease and healthy ones in the studied sample. Conclusions. The results indicate an expansion of the sample and range of studied polymorphic genes of proteins of the lectin pathway of CS activation due to their importance for the prevention of severe forms of diseases, as well as their significance in the functioning of the immune system.

About the authors

Marina Victorovna Smolnikova

Research Institute of Medical Problems of the North, Krasnoyarsk Scientific Center, Siberian Branch, Russian Academy of Sciences

Email: smarinv@yandex.ru
ORCID iD: 0000-0001-9984-2029
Scopus Author ID: 6504232633
ResearcherId: Q-2661-2016

Ph.D. (Biology), Head of the Molecular Genetic Research Group, Leading Researcher

Russian Federation, 660022, Russian Federation, Krasnoyarsk, st. Partizana Zheleznyaka, 3g.

Ksenia Vasilievna Afonicheva

Research Institute of Medical Problems of the North, Krasnoyarsk Scientific Center, Siberian Branch, Russian Academy of Sciences

Email: kseniya.kopylova@yandex.ru
ORCID iD: 0000-0002-5006-0429
Scopus Author ID: 57209318273
ResearcherId: AAE-3820-2019

Junior Researcher at the Molecular Genetic Research Group

Russian Federation, 660022, Russian Federation, Krasnoyarsk, st. Partizana Zheleznyaka, 3g.

Irina Vladimirovna Marchenko

Research Institute of Medical Problems of the North, Krasnoyarsk Scientific Center, Siberian Branch, Russian Academy of Sciences

Email: sonesoundfordj@mail.ru
ORCID iD: 0000-0001-9795-2056
ResearcherId: JVN-8773-2024

Junior Researcher at the Molecular Genetic Research Group

Russian Federation, 660022, Russian Federation, Krasnoyarsk, st. Partizana Zheleznyaka, 3g

Sergey Yurevich Tereshchenko

Scientific Research Institute of Medical Problems of the North FRC KSC SB RAS

Author for correspondence.
Email: legise@mail.ru
ORCID iD: 0000-0002-1605-7859
Scopus Author ID: 57188640428
ResearcherId: C-1004-2013

DM, Professor, Head of the Clinical Department of Somatic and Mental Health of Children

Russian Federation, 660022, Russian Federation, Krasnoyarsk, st. Partizana Zheleznyaka, 3g.

References

  1. Smolnikova M.V., Tereshchenko S.Yu. Proteins of the lectin pathway of the complement system activation: immunobiological functions, genetics and involvement in the pathogenesis of human diseases. Russian Journal of Infection and Immunity = Infektsiya i immunitet, 2022, Vol. 12, no. 2, pp. 209–221.
  2. https://iimmun.ru/iimm/article/view/1777 [10.15789/2220-7619-POT-1777]
  3. Badarukhiya J.A., Tupperwar N., Nizamuddin S., Mulpur A.K., Thangaraj K. Novel FCN2 Variants and Haplotypes are Associated with Rheumatic Heart Disease. DNA Cell Biol., 2021, Vol. 40, no. 10, pp. 1338–1348.
  4. - https://www.liebertpub.com/doi/10.1089/dna.2021.0478 [10.1089/dna.2021.0478]
  5. Bjarnadottir H., Arnardottir M., Ludviksson B.R. Frequency and distribution of FCN2 and FCN3 functional variants among MBL2 genotypes. Immunogenetics, 2016, no. 68, pp. 315–325.
  6. - https://link.springer.com/article/10.1007/s00251-016-0903-4 [10.1007/s00251-016-0903-4]
  7. Cedzynski M., Nuytinck L., Atkinson A.P.M., St Swierzko A., Zeman K., Szemraj J., Szala A., Turner M.L., Kilpatrick D.C. Extremes of l-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene. Clin Exp Immunol., 2007, Vol. 150, no. 1, pp. 99–104. - https://academic.oup.com/cei/article/150/1/99/6457697?login=false [10.1111/j.1365-2249.2007.03471.x]
  8. Dabrowska-Zamojcin E., Czerewaty M., Malinowski D., Tarnowski M., Słuczanowska-Głabowska S., Domanski L., Safranow K., Pawlik A. Ficolin-2 Gene rs7851696 Polymorphism is Associated with Delayed Graft Function and Acute Rejection in Kidney Allograft Recipients. Arch Immunol Ther Exp (Warsz). 2018, Vol. 66, no. 1, pp. 65–72. - https://link.springer.com/article/10.1007/s00005-017-0475-5 [10.1007/s00005-017-0475-5]
  9. Dobó J., Kocsis A., Farkas B., Demeter F., Cervenak L., Gál P. The Lectin Pathway of the Complement System—Activation, Regulation, Disease Connections and Interplay with Other (Proteolytic) Systems. International Journal of Molecular Sciences, 2024, Vol. 25, no. 3, p. 1566.
  10. - https://www.mdpi.com/1422-0067/25/3/1566 [10.3390/ijms25031566]
  11. Garred P., Honoré C., Ma Y.J., Rørvig S., Cowland J., Borregaard N., Hummelshøj T. The Genetics of Ficolins. JIN, 2010, Vol. 2, no. 1, pp. 3–16. - https://karger.com/jin/article/2/1/3/180165/The-Genetics-of-Ficolins [10.1159/000242419]
  12. Gaździcka J., Gołąbek K., Hudy D., Miśkiewicz-Orczyk K., Zięba N., Tynior W., Asman M., Misiołek M., Strzelczyk J.K. Selected SNPs of FCN2 Associated with Chronic Tonsillitis in the Polish Adult Population. Genes (Basel), 2023, Vol. 14, no. 2, p. 242. - https://www.mdpi.com/2073-4425/14/2/242 [10.3390/genes14020242]
  13. Gil E., Noursadeghi M., Brown J.S. Streptococcus pneumoniae interactions with the complement system. Front Cell Infect Microbiol., 2022, no. 12, p. 929483. - https://www.frontiersin.org/articles/10.3389/fcimb.2022.929483/full [10.3389/fcimb.2022.929483]
  14. Hummelshoj T., Munthe-Fog L., Madsen H.O., Fujita T., Matsushita M., Garred P. Polymorphisms in the FCN2 gene determine serum variation and function of Ficolin-2. Human Molecular Genetics, 2005, Vol. 14, no. 12, pp. 1651–1658. - https://academic.oup.com/hmg/article/14/12/1651/640375 [10.1093/hmg/ddi173]
  15. Jensen M.L., Honoré C., Hummelshøj T., Hansen B.E., Madsen H.O., Garred P. Ficolin-2 recognizes DNA and participates in the clearance of dying host cells. Mol Immunol., 2007, Vol. 44, no. 5, pp. 856–865. - https://www.sciencedirect.com/science/article/abs/pii/S0161589006001507?via%3Dihub [10.1016/j.molimm.2006.04.002]
  16. Metzger M.-L., Michelfelder I., Goldacker S., Melkaoui K., Litzman J., Guzman D., Grimbacher B., Salzer U. Low ficolin-2 levels in common variable immunodeficiency patients with bronchiectasis. Clinical & Experimental Immunology, 2015, Vol.179, no. 2, pp. 256–264. - https://academic.oup.com/cei/article/179/2/256/6422010?login=false [10.1111/cei.12459]
  17. Pan Q., Chen H., Wang F., Jeza V.T., Hou W., Zhao Y., Xiang T., Zhu Y., Endo Y., Fujita T., Zhang X.-L. L-Ficolin Binds to the Glycoproteins Hemagglutinin and Neuraminidase and Inhibits Influenza A Virus Infection Both in vitro and in vivo. J Innate Immun., 2012, Vol. 4, no. 3, pp. 312–324. - https://karger.com/jin/article/4/3/312/180336/L-Ficolin-Binds-to-the-Glycoproteins-Hemagglutinin [10.1159/000335670]
  18. Świerzko A.S., Jarych D., Gajek G., Chojnacka K., Kobiela P., Kufelnicka-Babout M., Michalski M., Sobczuk K., Szala-Poździej A., Matsushita M., Mazela J., Domżalska-Popadiuk I., Kilpatrick D.C., Kalinka J., Sekine H., Cedzyński M. Polymorphisms of the FCN2 Gene 3’UTR Region and Their Clinical Associations in Preterm Newborns. Frontiers in Immunology, 2021, Vol. 28, no. 12, p. 741140. - https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2021.741140/full [10.3389/fimmu.2021.741140]
  19. Xu D.-D., Wang C., Jiang F., Wei L.-L., Shi L.-Y., Yu X.-M., Liu C.-M., Liu X.-H., Feng X.-M., Ping Z.-P., Jiang T.-T., Chen Z.-L., Li Z.-J., Li J.-C. Association of the FCN2 Gene Single Nucleotide Polymorphisms with Susceptibility to Pulmonary Tuberculosis. PLoS One, 2015, Vol. 10, no. 9, p. e0138356. - https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0138356 [10.1371/journal.pone.0138356]

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Copyright (c) Smolnikova M.V., Afonicheva K.V., Marchenko I.V., Tereshchenko S.Y.

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