Статья
БИОХИМИЧЕСКИЕ МАРКЕРЫ ЭНДОТЕЛИАЛЬНОЙ ДИСФУНКЦИИ И ГЕМОСТАЗА ПРИ АТЕРОСКЛЕРОЗЕ И ГЕНЫ, ОТВЕТСТВЕННЫЕ ЗА ИХ РЕГУЛЯЦИЮ
В обзоре систематизируются современные представления о маркерах эндотелиальной дисфункции и нарушений гемостаза (асимметричный диметиларгинин, эндотелин-1, адгезивные молекулы ICAM, VCAM, аполипопротеины, антитромбин III, рецептор урокиназного активатора плазминогена, ингибитор пути тканевого фактора, фактор свертывания крови VII, фактор свертывания XII, протромбин), ассоциированных с атерогенезом, и о генах, ответственных за их регуляцию.
1. Никитин Ю.П., Николаев К.Ю., Рагино Ю.И. и др. Эндотелиальная дисфункция, гипертония, атеросклероз. Новосибирск: Изд-во СО РАН, 2014. 132 с.
2. Müller M.M., Griesmacher A. et al. Markers of endothelial dysfunction // Clin. Сhem. Lab. Med. 2000. Vol. 38, N 2. P. 77-85.
3. Böger R.H., Lenzen H., Hanefeld C. et al. Asymmetric dimethylarginine: an endogenous inhibitor of NO synthase is a predictor of the risk for coronary heart disease - results of the multicenter CARDIAC study // Circulation. 2003. Vol. 108 (Suppl. 4). P. 256-257.
4. Schulze F., Lenzen H., Hanefeld C. et al. Asymmetric dimethylarginine is an independent risk factor for coronary heart disease: Results from the multicenter Coronary Artery Risk Determination investigating the Influence of ADMA Concentration (CARDIAC) study // Am. Heart J. 2006. Vol. 152, N 3. P. 493-496.
5. Гайковая Л.Б., Кухарчик Г.А., Нестерова Н.Н. и др. Современные лабораторные маркеры в определении прогноза при остром коронарном синдроме и мониторинге терапии // Вестн. аритмологии. 2009. № 58. С. 52-59.
6. Lu T.M., Ding Y.A., Lin S.J., Lee W.S., Tai H.C. Plasma levels of asymmetrical dimethylarginine and adverse cardiovascular events after percutaneous coronary intervention // Eur. Heart J. 2003. Vol. 24. P. 1912-1919.
7. Valkonen V.P., Tuomainen T.P., Laaksonen R. DDAH gene and cardiovascular risk // Vascular Medicine. 2005. Vol. 10, N 1, Suppl. P. S45-S48.
8. Abhary S., Burdon K.P., Kuot A. et al. Sequence variation in DDAH1 and DDAH2 genes is strongly and additively associated with serum ADMA concentrations in individuals with type 2 diabetes // PLoS One. 2010. Vol. 5, N 3. P. e9462.
9. Arinami T. et al. Chromosomal assignments of the human endothelin family genes: the endothelin-1 gene (EDN1) to 6p23-p24, the endothelin-2 gene (EDN2) to 1p34, and the endothelin-3 gene (EDN3) to 20q13. 2-q13. 3 // Am. J. Human Genetics. 1991. Vol. 48, N 5. P. 990.
10. Simonson M.S., Wang Y., Dunn M.J. Cellular signaling by endothelin peptides: pathways to the nucleus // J. Am. Soc. Nephrology. 1992. Vol. 2, N 10. P. S116.
11. De Werra I., Jaccard C., Corradin S.B. et al. Cytokines, nitrite/nitrate, soluble tumor necrosis factor receptors, and procalcitonin concentrations: comparisons in patients with septic shock, cardiogenic shock, and bacterial pneumonia // Critical Care Med. 1997. Vol. 25, N 4. P. 607-613.
12. Tanaka C., Kamide K., Takiuchi S. et al. Evaluation of the Lys198Asn and-134delA genetic polymorphisms of the endothelin-1 gene // Hyperten. Res. 2004. Vol. 27, N 5. P. 367-371.
13. Halushka M.K., Fan J.B., Bentley K. et al. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis // Nature Genetics. 1999. Vol. 22, N 3. P. 239-247.
14. Cargill M., Altshuler D., Ireland J. et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes // Nature Genetics. 1999. Vol. 22, N 3. P. 231-238.
15. Blankenberg S., Barbaux S., Tiret L. Adhesion molecules and atherosclerosis. // Atherosclerosis. 2003. Vol. 170, N 2. P. 191-203.
16. Jiang H., Klein R.M., Niederacher D. et al. C/T polymorphism of the intercellular adhesion molecule-1 gene (exon 6, codon 469). A risk factor for coronary heart disease and myocardial infarction // Int. J. Cardiol. 2002. Vol. 84, N 2. P. 171-177.
17. Li D., Qu C., Dong P. The ICAM-1 K469E polymorphism is associated with the risk of coronary artery disease: a meta-analysis // Coronary Artery Disease. 2014. Vol. 25, N 8. P. 665-670.
18. Durrington P.N. et al. Lipoprotein (a): gene genie // Curr. Opin. Lipid. 2014. Vol. 25, N 4. P. 289-296.
19. Каюмова Р.Д., Каюмова Л.Р., Воробьева Е.В. и др. Изучение вклада генов аполипопротеина С-3 (арос-3) и аполипопротеина а-1 (ароА-1) в состояние липидного профиля сыворотки крови человека // Изв. Самарского науч. центра РАН. 2011. Т. 13, № 5. С. 3-6.
20. Lindgren V. et al. Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes // Proc. Nat. Acad. Sci. 1985. Vol. 82, N 24. P. 8567-8571.
21. Francke U., Brown M.S., Goldstein J.L. Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease // Proc. Nat. Acad. Sci. 1984. Vol. 81, N 9. P. 2826-2830.
22. Bock S.C. et al. Assignment of the human antithrombin III structural gene to chromosome 1q23-25 // Cytogen. Genome Res. 1985. Vol. 39, N 1. P. 67-69.
23. Tang L., Zeng W., Wang Q.Y. et al. Predominant mutations in a hotspot of SERPINC1 associated with venous thromboembolism in the Chinese population: a case-control study // Lancet. 2016. Vol. 388. P. S39.
24. Fuhrman B. The urokinase system in the pathogenesis of atherosclerosis // Atherosclerosis. 2012. Vol. 222, N 1. P. 8-14.
25. Casey J.R., Petranka J.G., Kottra J. et al. The structure of the urokinase-type plasminogen activator receptor gene // Blood. 1994. Vol. 84, N 4. P. 1151-1156.
26. Gyöngyösi M., Glogar D., Weidinger F. et al. Association between plasmin activation system and intravascular ultrasound signs of plaque instability in patients with unstable angina and non-st-segment elevation myocardial infarction // Am. Heart J. 2004. Vol. 147, N 1. P. 158-164.
27. Steins M.B., Padro T., Schwaenen C. et al. Overexpression of urokinase receptor and cell surface urokinase-type plasminogen activator in the human vessel wall with different types of atherosclerotic lesions // Blood Coagulation & Fibrinolysis. 2004. Vol. 15, N 5. P. 383-391.
28. Ragno P. The urokinase receptor: a ligand or a receptor? Story of a sociable molecule // Cell. Mol. Life Sci. CMLS. 2006. Vol. 63, N 9. P. 1028-1037.
29. Schneider U.V., Nielsen R.L., Pedersen C. et al. The prognostic value of the suPARnostic ELISA in HIV-1 infected individuals is not affected by uPAR promoter polymorphisms // BMC Infectious Diseases. 2007. Vol. 7, N 1. P. 1-12.
30. Klinger K.W. et al. Plasminogen activator inhibitor type 1 gene is located at region q21. 3-q22 of chromosome 7 and genetically linked with cystic fibrosis // Proc. Nat. Acad. Sci. 1987. Vol. 84, N 23. P. 8548-8552.
31. Nikolopoulos G.K. et al. The association between plasminogen activator inhibitor type 1 (PAI-1) levels, PAI-1 4G/5G polymorphism, and myocardial infarction: a Mendelian randomization meta-analysis // Clin. Chem. Lab. Med. (CCLM). 2014. Vol. 52, N 7. P. 937-950.
32. Ohyama Y. et al. Relationship between tissue factor pathway inhibitor and aortic stiffness assessed by MRI: the Multi-Ethnic Study of Atherosclerosis (MESA) // J. Cardiovasc. Magn. Res. 2016. Vol. 18, N 1. P. 1-10.
33. Girard T.J., Eddy R., Wesselschmidt R.L. et al. Structure of the human lipoprotein-associated coagulation inhibitor gene. Intro/exon gene organization and localization of the gene to chromosome 2 // J. Biol. Chem. 1991. Vol. 266, N 8. P. 5036-5041.
34. Kleesiek K., Schmidt M., Gotting C. et al. A first mutation in the human tissue factor pathway inhibitor gene encoding [P151L] TFPI // Blood. 1998. Vol. 92, N 10. P. 3976-3977.
35. Miyata T., Sakata T., Kumeda K. et al. C-399T polymorphism in the promoter region of human tissue factor pathway inhibitor (TFPI) gene does not change the plasma TFPI antigen level and does not cause venous thrombosis // Thromb. Haemost. 1998. Vol. 80, N 2. P. 345-346.
36. Moatti D., Seknadji P., Galand C. et al. Polymorphisms of the Tissue Factor Pathway Inhibitor (TFPI) Gene in Patients With Acute Coronary Syndromes and in Healthy Subjects Impact of the V264M Substitution on Plasma Levels of TFPI // Arterioscler., Thromb. Vascular. Biol. 1999. Vol. 19, N 4. P. 862-869.
37. Skretting G., Stavik B., Landvik N.E. et al. Functional characterization of polymorphisms in the human TFPI gene // Biochem. Biophys. Res. Commun. 2010. Vol. 397, N 1. P. 106-111.
38. Yu J., Liu R.L., Luo X.P. et al. Tissue Factor Pathway Inhibitor-2 Gene Polymorphisms Associate With Coronary Atherosclerosis in Chinese Population // Medicine. 2015. Vol. 94, N 42. P. 25-29.
39. Meade T.W., Mellows S., Brozovie M. et al. Haemostatic function and ischaemic heart disease: principal results of the Northwick Park Heart Study // Lancet. 1986. Vol. 328, N 8506. P. 533-537.
40. Cirillo P., Cali G., Golino P. et al. Tissue factor binding of activated factor VII triggers smooth muscle cell proliferation via extracellular signal-regulated kinase activation // Circulation. 2004. Vol. 109, N 23. P. 2911-2916.
41. Rao L.V., Rapaport S.I. Activation of factor VII bound to tissue factor: a key early step in the tissue factor pathway of blood coagulation // Proc. Nat. Acad. Sci. 1988. Vol. 85, N 18. P. 6687-6691.
42. Jude B., Zawadzki C., Susen S. et al. Relevance of tissue factor in cardiovascular disease // Arch. Maladies Coeur Vaisseaux. 2005. Vol. 98, N 6. P. 667-671.
43. Cortellaro M., Baldassarre D., Cofrancesco E. et al. Relation between hemostatic variables and increase of common carotid intima-media thickness in patients with peripheral arterial disease // Stroke. 1996. Vol. 27, N 3. С. 450-454.
44. Green D., Foiles N., Chan C. et al. An Association Between Clotting Factor VII and Carotid Intima-Media Thickness The CARDIA Study // Stroke. 2010. Vol. 41, N 7. P. 1417-1422.
45. O’Hara P.J., Grant J., Haldeman B.A. et al. Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation // Proc. Nat. Acad. Sci. 1987. Vol. 84, N 15. P. 5158-5162.
46. Ben-Hadj-Khalifa S. et al. Contribution of coagulation factor VII R353Q, 323P0/10 and HVR4 polymorphisms to coronary artery disease in Tunisians // J. Thromb. Thrombol. 2013. Vol. 35, N 2. P. 243-249.
47. Renné T., Schmaier A.H., Nickel K.F. et al. In vivo roles of factor XII // Blood. 2012. Vol. 120, N 22. P. 4296-4303.
48. Miller G.J., Esnouf M.P., Burgess A.I. et al. Risk of coronary heart disease and activation of factor XII in middle-aged men // Arterioscler. Thromb. Vasc. Biol. 1997. Vol. 17, N 10. P. 2103-2106.
49. Royle N.J. et al. Structural gene encoding human factor XII is located at 5q33-qter // Somatic Cell Mol. Gen. 1988. Vol. 14, N 2. P. 217-221.
50. Bach J. et al. Coagulation factor XII (FXII) activity, activated FXII, distribution of FXII C46T gene polymorphism and coronary risk // J. Thromb. Haemost. 2008. Vol. 6, N 2. P. 291-296.
51. Small M., Lowe G.D., Douglas J.T. et al. Thrombin and plasmin activity in coronary artery disease // British Heart J. 1988. Vol. 60, N 3. P. 201-203.
52. Royle N. J. et al. Human genes encoding prothrombin and ceruloplasmin map to 11p11-q12 and 3q21-24, respectively // Somatic Cell Mol. Gen. 1987. Vol. 13, N 3. P. 285-292.
53. Rosendaal F.R. et al. Geographic distribution of the 20210 G to A prothrombin variant // Thromb. Haemost. 1998. Vol. 79, N 4. P. 706-708.
54. Gerdes V.E.A., Cate H., Groot E. Arterial wall thickness and the risk of recurrent ischemic events in carriers of the prothrombin G20210A mutation with clinical manifestations of atherosclerosis // Atherosclerosis. 2002. Vol. 163, N 1. P. 135-140.
55. Jiang B. et al. Prothrombin G20210A mutation is associated with young-onset stroke the genetics of early-onset stroke study and meta-analysis // Stroke. 2014. Vol. 45, N 4. P. 961-967.
56. Kallel A. et al. Association Between the G20210A Polymorphism of Prothrombin Gene and Myocardial Infarction in Tunisian Population // Biochem. Gen. 2016. Vol. 54, N 5. P. 653-664.