Полиморфизм генов STAT4, PTPN22, VEGF, TGF-B, PDCD1 и PD-L1 у детей с наследственным нефритом и поликистозом почек

А. Г. Белькевич, А. В. Сукало, И. А. Козыро, Н. В. Никитченко, Р. И. Гончарова, Н. В. Савина УО «Белорусский государственный медицинский университет», ГНУ «Институт генетики и цитологии НАН Беларуси»

2021 №2 | Оригинальные научные публикации

Аннотация

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Изучение молекулярно-генетической природы наследственных болезней почек является актуальным в современной нефрологии, так как позволяет уточнить этиологию, разработать новые методы лечения и профилактики подобных заболеваний. Цель: изучить генетический полиморфизм по отдельным локусам генов STAT4, PTPN22, VEGF, TGF-B, PDCD1 и PD-L1 у детей с наследственными болезнями почек.

Ключевые слова:

полиморфизм, ген, дети, наследственный нефрит, поликистоз почек

Polymorphism of STAT4, PTPN22, VEGF, TGF-B, PDCD1 AND PD-L1 genes in children with hereditary nephritis and polycystic kidney disease

The study of the molecular and genetic nature of inherited kidney diseases is relevant in modern nephrology. It allows us to establish the etiology, develop new methods of treatment and prevention. The aim of the research was to study the genetic polymorphism of STAT4, PTPN22, VEGF, TGF-B, PDCD1 and PD-L1 in children with hereditary kidney diseases.

Keywords

polymorphism, genes, children, hereditary nephritis, polycystic kidney disease

1. Андреева, Э. Ф. Кистозные болезни почек у детей: учеб. пособие / Э. Ф. Андреева, Н. Д. Савенкова. – СанктПетербург: СПбГПМУ, 2012. – 40 с.
2. Длин, В. В. Нефропатии с синдромом гематурии у детей / В. В. Длин, М. С. Игнатова. – М.: Оверлей, 2016. – 120 с.
3. Chen, S. Y. Association of STAT4 polymorphisms with susceptibility to primary membranous glomerulonephritis and renal failure [Electronic resource] / S. Y. Chen // Journal Clin Chim Acta. – 2011. – № 412. – Access of mode: https://www.sciencedirect.com/science/article/abs/pii/S0009898111003548?via%3Dihub. – Date of access: 30.11.2020.
4. Dai, S. The PD1/PDLs pathway and autoimmune diseases [Electronic resource] / S. Dai // Journal Cellular Immunology. – 2014. – № 290(1). – Access of mode: https://www.sciencedirect. com / science / article / abs / pii /S0008874914000847?via%3Dihub. – Date of access: 30.11.2020.
5. Domański, L. Lack of association of the rs2476601 PTPN22 gene polymorphism with transplanted kidney function [Electronic resource] / L. Domański // Journal Ann Transplant. – 2011. – № 16(4). – Access of mode: https://pubmed.ncbi.nlm.nih.gov/17136123/. – Date of access: 01.12.2020.
6. Gonzalez, G. R. SNPassoc: an R package to perform whole genome association studies [Electronic resource] /G. R. Gonzalez // Journal Bioinformatics. – 2007. – № 23(5). – Access of mode: https://academic.oup.com/bioinformatics/article/23/5/654/239565. – Date of access: 01.12.2020.
7. Hahn, W. H. Polymorphisms of signal transducers and activators of transcription 1 and 4 (STAT1 and STAT4) contribute to progression of childhood IgA nephropathy [Electronic resource] / W. H. Hahn // Journal Cytokine. – 2010. – № 50(1). – Access of mode: https://www.sciencedirect.com/science/article/abs/pii/S1043466609009041?via%3Dihub. – Date of access: 01.12.2020.
8. Jimenez-Sousa, M. A. Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with endstage renal disease: a preliminary study [Electronic resource] / M. A. JimenezSousa // Journal BMC Med Genet. – 2012. – № 13. – Access of mode: https://bmcmedgenet.biomedcentral.com/articles/10.1186/147123501358. – Date of access: 01.12.2020.
9. Keir, M. E PD1 and its ligands in tolerance and immunity [Electronic resource] / M. E. Keir // Journal Annu RevImmunol. – 2008. – №26. – Access of mode: https://pubmed.ncbi.nlm.nih.gov/18173375/. – Date of access: 01.12.2020.
10. Korman, B. D. STAT4: genetics, mechanisms and implications for autoimmunity [Electronic resource] / B. D. Korman // Journal Curr Allergy Asthma Rep. – 2008. – № 8(5). –Access of mode: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562257/. – Date of access: 29.11.2020.
11. Liang, Y. Therapeutic potential of STAT4 in autoimmunity [Electronic resource] / Y. Liang // Journal Expert Opin Ther Targets. – 2014. – № 18(8). – Access of mode: https://www.tandfonline.com/doi/full/10.1517/14728222.2014.920325. – Date of access: 28.11.2020.
12. Maixnerova, D. Markers for the progression of IgA nephropathy [Electronic resource] / D. Maixnerova // Journal Nephrol. – 2016. – № 29(4). – Access of mode: https://link.springer.com/article/10.1007/s4062001602990. – Date of access: 27.11.2020.
13. Summers, A. M. VEGF460 genotype plays an important role in progression to chronic kidney disease stage 5 [Electronic resource] / A. M. Summers // Journal Nephrol Dial Transplant. – 2005. – № 20(11). – Access of mode: https://academic.oup.com/ndt/article/20/11/2427/1829320. – Date of access: 30.11.2020.
14. Yokota, N. Contrasting roles for STAT4 and STAT6 signal transduction pathways in murine renal ischemiareperfusion injury [Electronic resource] / N. Yokota // Journal Am J Physiol Renal Physiol. – 2003. – № 285(2). – Access of mode: https://journals.physiology.org/doi/full/10.1152/ajprenal.00432.2002?rfr_dat=cr_pub++0pubmed&url_ver=Z39.882003&rfr_id=ori%3Arid%3Acrossref.org. – Date of access: 29.11.2020.
References
1. Andreeva, Je. F. Cystic kidney disease in children:textbook. allowance / Je. F. Andreeva, N. D. Savenkova. – SanktPeterburg: SPbGPMU, 2012. – 40 s.
2. Dlin, V. V. Nephropathies with hematuria syndrome in children / V. V. Dlin, M. S. Ignatova. – M.: Overlej, 2016. – 120 s.
3. Association of STAT4 polymorphisms with susceptibility to primary membranous glomerulonephritis and renal failure [Electronic resource] / S. Y. Chen // Journal Clin Chim Acta. – 2011. – № 412. – Access of mode: https://www.sciencedirect.com/science/article/abs/pii/S0009898111003548?via%3Dihub. – Date of access: 30.11.2020.
4. Dai, S. The PD1 / PDLs pathway and autoimmune diseases [Electronic resource] / S. Dai // Journal Cellular Immunology. – 2014. – № 290(1). – Access of mode:https://www.sciencedirect.com/science/article/abs/pii/S0008874914000847?via%3Dihub. – Date of access: 30.11.2020.
5. Domański, L. Lack of association of the rs2476601 PTPN22 gene polymorphism with transplanted kidney function [Electronic resource] / L. Domański // Journal Ann Transplant. – 2011. – № 16(4). – Access of mode: https://pubmed.ncbi.nlm.nih.gov/17136123/. – Date of access: 01.12.2020.
6. Gonzalez, G. R. SNPassoc: an R package to perform whole genome association studies [Electronic resource] /G. R. Gonzalez // Journal Bioinformatics. – 2007. – № 23(5). – Access of mode: https://academic.oup.com/bioinformatics/article/23/5/654/239565. – Date of access: 01.12.2020.
7. Hahn, W. H. Polymorphisms of signal transducers and activators of transcription 1 and 4 (STAT1 and STAT4) contribute to progression of childhood IgA nephropathy [Electronic resource] / W. H. Hahn // Journal Cytokine. – 2010. – № 50 (1). – Access mode: https://www.sciencedirect.com/science/article/abs/pii/S1043466609009041?via%3Dihub. – Date of access: 01.12.2020.
8. Jimenez-Sousa, M. A. Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with endstage renal disease: a preliminary study [Electronic resource] / M. A. JimenezSousa // Journal BMC Med Genet. – 2012. – № 13. – Access of mode: https://bmcmedgenet. biomedcentral.com/articles/10.1186/147123501358. – Date of access: 01.12.2020.
9. Keir, M. E PD1 and its ligands in tolerance and immunity [Electronic resource] / M. E. Keir // Journal Annu Rev Immunol. – 2008. – № 26. – Access of mode: https://pubmed.ncbi.nlm.nih.gov/18173375/. – Date of access: 01.12.2020.
10. Korman, B. D. STAT4: genetics, mechanisms, and implications for autoimmunity [Electronic resource] / B. D. Korman // Journal Curr Allergy Asthma Rep. – 2008. – № 8(5). – Access of mode: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562257/. – Date of access: 11.29.2020.
11. Liang, Y. Therapeutic potential of STAT4 in autoimmunity [Electronic resource] / Y. Liang // Journal Expert Opin Ther Targets. – 2014. – № 18(8). – Access of mode: https://www.tandfonline.com/doi/full/10.1517/14728222.2014.92035. – Date of access: 28.11.2020.
12. Maixnerova, D. Markers for the progression of IgA nephropathy [Electronic resource] / D. Maixnerova // Journal Nephrol. – 2016. – № 29(4). – Access of mode: https://link. springer.com/article/10.1007/s4062001602990. – Access of date: 11.27.2020.
13. Summers, A. M. VEGF460 genotype plays an important role in progression to chronic kidney disease stage 5 [Electronic resource] / A. M. Summers // Journal Nephrol Dial Transplant. – 2005. – № 20(11). – Access of mode: https://academic.oup.com/ndt/article/20/11/2427/1829320. – Date of access: 30.11.2020.
14. Yokota, N. Contrasting roles for STAT4 and STAT6 signal transduction pathways in murine renal ischemiareperfusion injury [Electronic resource] / N. Yokota // Journal Am J Physiol Renal Physiol. – 2003. – № 285(2). – Access of mode: https://journals.physiology.org/doi/full/10.1152/ajprenal. 00432.2002?rfr_dat=cr_pub++0pubmed&url_ver=Z39.88–2003&rfr_id=ori%3Arid%3Acrossref.org. – Date of access: 11.29.2020.