Genetic polymorphisms of the hemostasis system
https://doi.org/10.25789/YMJ.2019.65.26
Abstract
The main genes of hemostasis system are presented in article: FGB, FII, FV, FVII, FXIII, ITGA2, ITGB3, MTHFR, PAI-1 and also genes, concerning the system of hemostasis. The role of polymorphisms of these genes in formation of pathological states as thromboses and thrombophilia is described, also the polymorphisms of genes of hemostasis having protective effect are considered.
About the Authors
Yu. A. Solovyova
Federal State Autonomous Educational Institution of Higher Education “M. K. Ammosov North-Eastern Federal University”
Russian Federation
Russian Federation
Solovyova Yulia Alekseevna, postgraduate student of “Normal and Pathological Physiology” department
27 Oyunskogo Street Yakutsk, 677000. Office number: +7 (914) 276-71- 20
N. V. Borisova
Federal State Autonomous Educational Institution of Higher Education “M. K. Ammosov North-Eastern Federal University”
Russian Federation
Russian Federation
Borisova Natalya Vladimirovna, Doctor of Medical Sciences, Professor of “Normal and Pathological Physiology” department, Medical Institute
27 Oyunskogo Street Yakutsk, 677000. Office number: +7 (4112) 36-30- 46
S. S. Sleptsova
Federal State Autonomous Educational Institution of Higher Education “M. K. Ammosov North-Eastern Federal University”
Russian Federation
Russian Federation
Sleptsova Snezhana Spiridonovna, Doctor of Medical Sciences, Professor of “Infectious diseases, phthisiology and dermatovenereology” department, Medical Institute
27 Oyunskogo Street Yakutsk, 677000. Office number: +7 (4112) 43-22-25
Kh. A. Kurtanov
Yakut Science Centre of complex medical problems
Russian Federation
Russian Federation
Kurtanov Khariton Alekseyevich, Candidate of Medical Sciences, Chief researcher, Head of Department of Molecular Genetics
4 Sergelyakhskoye shosse Yakutsk, 677000. Office number: (4112) 32-19-81
N. I. Pavlova
Yakut Science Centre of complex medical problems
Russian Federation
Russian Federation
Pavlova Nadezhda Ivanovna, Candidate of Biological Sciences, leading researcher, Head of Hereditary Pathology laboratory
4 Sergelyakhskoye shosse Yakutsk, 677000. Office number: (4112) 32-19-81
N. A. Solovyova
Yakut Science Centre of complex medical problems
Russian Federation
Russian Federation
Solovyova Natalya Alekseevna, Candidate of Medical Sciences, leading researcher
4 Sergelyakhskoye shosse Yakutsk, 677000. Office number: (4112) 32-19-81
References
1. A role of allelic options of genes of fibrillation in the speed of progressing of fibrosis at chronic diseases of a liver / E.E. Starostina [et al.] // Pharmateka. – 2015. – Vol. 20. – P. 17-23.
2. Sleptsova S.S. Parenteral viral hepatitises and their outcomes in the Republic Sakha (Yakutia) / S.S. Sleptsova. – M, 2017. – P. 208.
3. Assessment of genetic determinants of the association of cY’ fibrinogen in relation to cardiovascular disease / R.S. Lovely [et al.] // Arteriosclerosis, Thrombosis, and Vascular Biology. – 2011. – Vol.31. – P.2345– 2352. doi.org/10.1161/ATVBAHA.111.232710
4. Association between patterns of nucleotide variation across the three fibrinogen genes and plasma fibrinogen levels; the coronary artery risk development in young adults (CARDIA) study / A.P. Reiner [et al.] // Journal of Thrombosis and Haemostasis. – 2006. – Vol.4. – P.1279–1287.
5. Association between polymorphisms in the coagulation factor VII gene and coronary heart disease risk in different ethnicities: a meta-analysis / X. Mo [et al.] // BMC Med Genet. – 2011. – Vol.12. – P.107. doi:10.1186/1471-2350-12-107.
6. Association Between the G20210A Polymorphism of Prothrombin Gene and Myocardial Infarction in Tunisian Population / A. Kallel [et al.] // Biochem Genet. – 2016. – Vol.54(5). – P. 653-664. doi:10.1007/s10528-016-9744-y.
7. Association of coagulation-related and inflammation-related genes and factor VIIc levels with stroke: Cardiovascular Health Study / N.A. Zakai [et al.] // J Thromb Haemost. – 2011. – Vol.9(2). – P.267-274. doi:10.1111/j.1538-7836.2010.04149.x.
8. Association of Single Nucleotide Polymorphisms in the ST3GAL4 Gene with VWF Antigen and Factor VIII Activity / J. Song [et al.] // PLoS One. – 2016. – Vol.11(9). – P.160757. doi: 10.1371/journal.pone.0160757.
9. Barkagan Z.S. Diagnostics and controlled therapy of hemostasis disturbances. – The 2nd edition supplemented / Z.S. Barkagan, A.P. Momot. – M.: Newdiamed. – 2001. – P. 296
10. Dashti A.A. Race differences in the prevalence of the factor V Leiden mutation in Kuwaiti nationals / A.A. Dashti, M.M. Jadaon // Mol Biol Rep. – 2011. – Vol.38(6). – P.3623-8. doi: 10.1007/s11033-010-0474-7.
11. Dziadosz M. Global prevalence of prothrombin gene mutation G20210A and iMPLications in women’s health: a systematic review / M. Dziadosz, L.V. Baxi // Blood Coagul Fibrinolysis. – 2016. – Vol.27(5). – P. 481-9. doi: 10.1097/MBC.0000000000000562.
12. Epidemiology of factor V Leiden: clinical iMPLications / V. De Stefano [et al.] // Semin Thromb Hemost. – 1998. – Vol.24(4). – P.367-79.
13. Epistatic and pleiotropic effects of polymorphisms in the fibrinogen and coagulation factor XIII genes on plasma fibrinogen concentration, fibrin gel structure and risk of myocardial infarction / M.N. Mannila [et al.] // Thrombosis and Haemostasis. – 2006. – Vol. 95. – P.420–427.
14. Ethnic distribution of factor V Leiden in 4047 men and women. IMPLications for venous thromboembolism screening / P. M. Ridker [et al.] // JAMA. – 1997. – Vol.277(16). – P.1305-7.
15. Fibrinogen and clot-related phenotypes determined by fibrinogen polymorphisms: Independent and IL-6-interactive associations / H.T. Cronjé [et al.] // PLoS One. – 2017. – Vol.12(11). – P.187712. doi:10.1371/journal.pone.0187712.
16. Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans / W. Tang [et al.] // Am J Hematol. – 2015. – Vol.90(6). – P.534-40. doi: 10.1002/ajh.24005.
17. Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and IMPLicates Obesity as a Causal Risk Factor / D. Klarin [et al.] // Circ Cardiovasc Genet. – 2017. – Vol.10(2). doi:10.1161/circgenetics.116.001643.
18. Genetic association between FXIII and β-fibrinogen genes and women with recurrent spontaneous abortion: a meta– analysis / J. Li [et al.] // J Assist Reprod Genet. – 2015. – Vol.32(5). – P.817-825. doi:10.1007/s10815-015-0471-9.
19. Genetic polymorphisms influencing total and γ’ fibrinogen levels and fibrin clot properties in Africans / R.C. Kotzé [et al.] // Br J Haematol. – 2015. – Vol.168(1). – P.102-112. doi:10.1111/bjh.13104.
20. Genetic variants in PLG, LPA, and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels / Q. Ma [et al.] // Blood. – 2014. – Vol.124(20). – P.3155–64. doi: 10.1182/blood-2014-03-560086
21. Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation / J. Huang [et al.] // Blood. – 2012. – Vol.120(24). – P.4873–81.
22. Global fibrinolytic activity, PAI-1 level, and 4G/5G polymorphism in Thai children with arterial ischemic stroke / R. Natesirinilkul [et al.] // J Stroke Cerebrovasc Dis. – 2014. – Vol.23(10). – P.2566-72. doi:0.1016/j.jstrokecerebrovasdis.
23. Global Hepatitis Alliance Annual Report 2017. Geneva: World Health Organization; 2017. (https://www.afro.who.int/sites/default/files/2017-06/9789241565455-eng.pdf)
24. Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association / K.C. Desch [et al.] // Proc Natl Acad Sci U S A. – 2013. – Vol.110(2). P. 588-93. doi: 10.1073/pnas.1219885110.
25. Meta-analysis of Factor V Leiden G1691A polymorphism and osteonecrosis of femoral head susceptibility / X. Shang [et al.] // Biomed Rep. – 2013. – Vol.1(4). – P. 594–598. doi: 10.3892/br.2013.93
26. Multiethnic meta-analysis of genomewide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease / M. Sabater-Lleal [et al.] // Circulation. – 2013. – Vol.128(12). – P.1310–24. doi: 10.1161/CIRCULATIONAHA.113.002251
27. Pearson T. A. How to interpret a genomewide association study / T.A. Pearson, T.A. Manolio // JAMA. — 2008. — Vol. 299, No. 11. — P. 1335—1344. — DOI:10.1001/jama.299.11.1335.
28. Poort S.R. A common genetic variation in the 3’-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis / S.R. Poort [et al.] // Blood. – 1996. – Vol. 88(10). – P. 3698-703.
29. Prevalence of factor V Leiden G1691A, MTHFR C677T, and prothrombin G20210A among AsianIndian sickle cell patients / S. K. Pandey [et al.] // Clin Appl Thromb Hemost. – 2012. Vol.18(3). – P. 320-3. doi: 10.1177/1076029611425830.
30. Prevalence of the G1691A mutation in the factor V gene (factor V Leiden) and the G20210A prothrombin gene mutation in the Thai population / P. Angchaisuksiri [et al.] // Am J Hematol. – 2000. –Vol.65(2). – P.119-22.
31. Prothrombin G20210A (rs1799963) polymorphism increases myocardial infarction risk in an age-related manner: A systematic review and meta-analysis / C. Li [et al.] // Sci Rep. – 2017. – Vol. 7(1). P. 13550. doi:10.1038/s41598-017-13623-6.
32. Relationship of plasminogen activator inhibitor 1 gene 4G/5G polymorphisms to hypertension in Korean women / K.N. Kim [et al.] // Chin Med J (Engl). – 2012. – Vol.125(7). – P.1249-53.
33. Two common, functional polymorphisms in the promoter region of the b fibrinogen gene contribute to regulation of plasma fibrinogen concentration / F.M. Van’t Hooft [et al.] // Arteriosclerosis, Thrombosis, and Vascular Biology. – 1999. – Vol.19. – P.3063–3070.
34. Variant of PAI-2 gene is associated with coronary artery disease and recurrent coronary event risk in Chinese Han population / X. Li [et al.] // Lipids Health Dis. – 2015. – Vol. 16(1)4. – P.148. doi: 10.1186/s12944-015-0150-y.
35. Varied association of prothrombin G20210A polymorphism with coronary artery disease susceptibility in different ethnic groups: evidence from 15,041 cases and 21,507 controls / B. Jin [et al.] // Mol Biol Rep. – 2011. – Vol.38(4). – P. 2371. doi: 10.1007/s11033-010-0370-1
Review
For citations:
Solovyova Yu.A., Borisova N.V., Sleptsova S.S., Kurtanov Kh.A., Pavlova N.I., Solovyova N.A. Genetic polymorphisms of the hemostasis system. Yakut Medical Journal. 2019;(1):82-88. https://doi.org/10.25789/YMJ.2019.65.26
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