ПРЕДПОСЫЛКИСОЗДАНИЯ МЕДИЦИНСКОГО РАДИОЛОГИЧЕСКОГО КЛАСТЕРА, ОСНОВАННОГО НА ЯДЕРНЫХ ТЕХНОЛОГИЯХ, В ГОРОДЕ СЕМЕЙ ВОСТОЧНО-КАЗАХСТАНСКОЙ ОБЛАСТИ

В обзоре представлены результаты изучения молекулярно-генетических механизмов развития артериальной гипертензии и патофизиологическая роль полиморфизма генов при болезнях системы кровообращения. Представлен новый взгляд на молекулярно-генетическую регуляцию артериального давления на примере полиморфизма генов ангиотензиногена, оксида азота и эндотелина-1.

А. М. Маркабаева

Государственный медицинский университет города Семей, г. Семей, Казахстан

Әдебиеттер:
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13.     Alvarez R., Gonzalez P., Batalla A. et al. Association between the NOS3 (-786 T/C) and the ACE (I/D) DNA genotypes and earlycoronaryarterydisease // Nitric Oxide. 2001. N 5(4). P. 343–348.
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15.     Chen P., Jiang Y. F., Cheng K. Meta-analysis on the association 26 оf AGT M235T polymorphism and essential hypertension in Chinese population // Zhonghua. 2003. N 24. Р. 711-714.
16.     Cheng X., Xu G. Association between aldosterone synthase CYP11B2 polymorphism and essential hypertension in Chinese: a meta-analysis // Kidney Blood Press. Res. 2009. Vol. 32. N 2. Р. 128-140.
17.     Casas J. P., Bautista L. E., Humphries S. E., Hingorani A. D. Endothelial nitric oxide synthase genotype and ischemic heart disease: meta-analysis of 26 studies involving 23028 subjects // Circulation. 2004. N 109(11). P. 1359–1365.
18.     2003 European Society of Hypertension -European Society of Cardiology guidelines for the management of arterial hypertension // J. Hypertension. 2003. V. 21. P. 1011.
19.     Goodfriend T. l., Elliot M. E., Catt K. J. Angiotensin receptors and their antagonists // New Engl. J. Med. 1996. N. 334. P. 1649-1654.
20.     Gardemann A. et al. Angiotensinogen T174M and M235T gene polymorphisms are associated with the extent of coronary atherosclerosis // Atherosclerosis. 1999. N. 145. Р. 309-314.
21.     Hyndman M. E., Parsons H. G., Verma S. et al. The T-786C mutation in endothelial nitric oxide synthase is associated with hypertension // Hypertension. 2002. N 39(4). P. 919–922.
22.     He J. et al. Genetic variants in the renin-angiotensin-aldosterone system and blood pressure responses to potassium intake // J Hypertens. 2011. Vol. 29. N. 9. Р. 1719-1730.
23.     Harrison D. G. Cellular and molecular mechanisms of endothelial cell dysfunction // J. Clin. Invest. 1997. N. 100(9). P. 2153–2157.
24.     Hamelin B. A. et al. Increased risk of myocardial infarction associated with angiotensin-converting enzyme gene polymorphism is age dependent // J Clin Pharmacol. 2011. Vol. 51.N. 9. Р. 1286-1292.
25.     Hibi K., Ishigami T., Tamura K. et al. Endothelial nitric oxide synthase gene polymorphism and acute myocardial infarction // Hypertension. 1998. Vol. 32. N 3. P. 521-526
26.     Jeerooburkhan N., Jones L. C., Bujac S. et al. Genetic and environmental determinants of plasma nitrogen oxides and risk of ischemic heart disease // Hypertension. 2001. N 38(5). P. 1054–1061.
27.     Katsuya T. et al. Association of angiotensinogen gene T235 variant with increased risk of coronary heart disease // Lancet. 1995. N. 345. P. 1600-1603.
28.     Luscher T. F., Tschudi M. R., Wenzel R. R., Noll G. Endothelial dysfunction and nitrogen monoxide (NO; nitric oxide) // Internist (Berl.). 1997. N. 38(5). P. 411–419.
29.     Liu J. B. The relationship between polymorphism of angiotensinogen gene and essential hypertension // Chinese Journal of Epidemiology. 2000. N. 21. Р. 407-409.
30.     Mehta J. L., Li D. Y. Inflammation in ischemic heart disease: response to tissue injuryor a pathogenetic villain? // Cardiovasc. Res. 1999. N. 43(2). P. 291–299.
31.     Marsden P.A., Heng H.H., Scherer S.W. et al. Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene // J. Biol. Chem. N. 1993. N. 268(23). P. 17478–17488.
32.     Nakayama M., Yasue H., Yoshimura M. et al. T(-786)C mutation in the 5’-flanking region of the endothelial nitric oxide synthase gene is associated with myocardial infarction, especially without coronaryorganic stenosis // Am. J. Cardiol. 2000. N. 86(6). P. 628–634.
33.     Poirier O., Mao C., Mallet C. et al. Polymorphisms of the endothelial nitric oxide synthase gene – no consistent association with myocardial infarction in the ECTIM study // Eur. J. Clin. Invest. 1999. N. 29(4). P. 284–290.
34.     Reinhardt D. et al. A common variant of the angiotensinogen gene and the risk of coronary artery disease in a German population // Pharmazie. 2000. N. 55. Р. 69-71.
35.     Rotimi C. et al. Angiotensinogen gene in human hypertension. Lack of an association of the 235T allele among African Americans // Hypertension. 1994. N. 24. P. 591-594.
36.     Simbirtsev A. S. Functional polymorphism of genes of inflammation regulatory molecules // Cytokines and inflammation. 2005. N. 1. P. 35-40.
37.     Sethi A. A. Nordestgaard B. G., Agerholm-Larsen B. et al. Angiotensinogen polymorphisms and elevated blood pressure in the general population: the Copenhagen City Heart Study // Hypertension. 2001. N. 3. P. 875-881.
38.     Sethi A. A. et al. Angiotensinogen single nucleotide polymorphisms, elevated blood pressure, and risk of cardiovascular disease // Hypertension. 2003. N. 6. P. 102-111.
39.     Schmidt S. et al. Association of M235T variant of the angio-tensinogen gene with familial hypertension of early onset // Nephrol. Dial. Transplant. 1995. N.7. P. 1145-1148.
40.     Tiret L., Poirier O., Hallrt V., et al. The Lys198Asn polymorphism in the endothelin-1 gene is associated with blood pressure in overweight people // Hypertension. 1999. N. 33. P. 1169-1174.
41.     World Health Organization. Global status report on noncommunicable diseases 2010. Geneva. World Health Organization. 2011. P. 221.
42.     Wenzel K. et al. Relationship of polymorphisms in the renin-angiotensin system and in E-selectin of patients with early severe coronary heart disease // J. Mol. Med. 1997. N. 75. Р. 57-61.
43.     Wang X. L., Wang J. Endothelial nitric oxide synthase gene sequence variations and vascular disease // Molec. Genet. and Metabol. 2000. N. 70(4). P. 241–251.
44.     Zafarmand M. H., Nijdam M. E., Franx A. et al. The angiotensinogen gene M235T polymorphism and development of preeclampsia/eclampsia: a meta-analysis and meta-regression of observational studies // J. Hypertens. 2008. Vol. 26. Р. 1726-1734.
45.     Zafarmand H. M. et al. The M235T Polymorphism in the AGT Gene and CHD Risk: Evidence of a Hardy-Weinberg Equilibrium Violation and Publi-cation Bias in a Meta-Analysis // Cardiо. J. S. 2008. N. 15. Р. 25-30.
46.     Zhang R., Min W., Sessa W. C. Functional analysis of the human endothelial nitric oxide synthase promoter. Sp1 and GATA factors are necessary for basal transcription in endothelial cells // J. Biol. Chem. 1995. N. 270(25). P. 15320–15326.  
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13. Alvarez R., Gonzalez P., Batalla A. et al. Association between the NOS3 (-786 T/C) and the ACE (I/D) DNA genotypes and early coronary artery disease. Nitric Oxide. 2001, 5(4), pp.343–348.
14. Asai T., Ohkubo T., Katsuya T., et al. Endothelin-1 gene variant associates with blood pressure in obese Japanese subjects. Am J Hypertension. 2001, 38, pp. 1321-1324.
15. Chen P., Jiang Y. F., Cheng K. Meta-analysis on the association 26 оf AGT M235T polymorphism and essential hypertension in Chinese population. Zhonghua. 2003, 24, pp. 711-714.
16. Cheng X., Xu G. Association between aldosterone synthase CYP11B2 polymorphism and essential hypertension in Chinese: a meta-analysis. Kidney Blood Press. Res. 2009, 2, pp. 128-140.
17. Casas J. P., Bautista L. E., Humphries S. E., Hingorani A. D. Endothelial nitric oxide synthase genotype and ischemic heart disease: meta-analysis of 26 studies involving 23028 subjects. Circulation. 2004, 109(11), pp. 1359–1365.
18. 2003 European Society of Hypertension -European Society of Cardiology guidelines for the management of arterial hypertension. J. Hypertension. 2003, 21, pp. 1011.
19. Goodfriend T. l., Elliot M. E., Catt K. J. Angiotensin receptors and their antagonists. New Engl. J. Med. 1996, 334, pp. 1649-1654.
20. Gardemann A. et al. Angiotensinogen T174M and M235T gene polymorphisms are associated with the extent of coronary atherosclerosis. Atherosclerosis. 1999, 145, pp. 309-314.
21. Hyndman M. E., Parsons H. G., Verma S. et al. The T-786C mutation in endothelial nitric oxide synthase is associated with hypertension. J Hypertension. 2002, 39(4), pp. 919–922.
22. He J. et al. Genetic variants in the renin-angiotensin-aldosterone system and blood pressure responses to potassium intake. J Hypertension. 2011, 9, pp. 1719-1730.
23. Harrison D.G. Cellular and molecular mechanisms of endothelial cell dysfunction. J. Clin. Invest. 1997, 100(9), pp. 2153–2157.
24. Hamelin B. A. et al. Increased risk of myocardial infarction associated with angiotensin-converting enzyme gene polymorphism is age dependent. J Clin Pharmacol. 2011, 9, pp. 1286-1292.
25. Hibi K., Ishigami T., Tamura K. et al. Endothelial nitric oxide synthase gene polymorphism and acute myocardial infarction. J. Hypertension. 1998, 3, pp. 521-526.
26. Jeerooburkhan N., Jones L. C., Bujac S. et al. Genetic and environmental determinants of plasma nitrogen oxides and risk of ischemic heart disease. J. Hypertension. 2001, 38(5). pp. 1054–1061.
27. Katsuya T. et al. Association of angiotensinogen gene T235 variant with increased risk of coronary heart disease. Lancet. 1995, 345, pp. 1600-1603.
28. Luscher T. F., Tschudi M. R., Wenzel R. R., Noll G. Endothelial dysfunction and nitrogen monoxide (NO; nitric oxide). Internist (Berl.). 1997, 38(5), pp. 411–419.
29. Liu J. B. The relationship between polymorphism of angiotensinogen gene and essential hypertension. Chinese Journal of Epidemiology. 2000, 21, pp. 407-409.
30. Mehta J. L., Li D. Y. Inflammation in ischemic heart disease: response to tissue injuryor a pathogenetic villain? Cardiovasc. Res. 1999, 43(2), pp. 291–299.
31. Marsden P. A., Heng H. H., Scherer S. W. et al. Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J. Biol. Chem. N. 1993, 268(23), pp. 17478–17488.
32. Nakayama M., Yasue H., Yoshimura M. et al. T(-786)C mutation in the 5’-flanking region of the endothelial nitric oxide synthase gene is associated with myocardial infarction, especially without coronary organic stenosis. Am. J. Cardiol. 2000, 86(6), pp. 628–634.
33. Poirier O., Mao C., Mallet C. et al. Polymorphisms of the endothelial nitric oxide synthase gene – no consistent association with myocardial infarction in the ECTIM study. Eur. J. Clin. Invest. 1999, 29(4), pp. 284–290.
34. Reinhardt D. et al. A common variant of the angiotensinogen gene and the risk of coronary artery disease in a German population. Pharmazie. 2000, 55, pp. 69-71.
35. Rotimi C. et al. Angiotensinogen gene in human hypertension. Lack of an association of the 235T allele among African Americans. Hypertension. 1994, 24, pp. 591-594.
36. Simbirtsev A. S. Functional polymorphism of genes of inflammation regulatory molecules. Cytokines and inflammation. 2005, 1, pp. 35-40.
37. Sethi A. A., Nordestgaard B. G., Agerholm-Larsen B. et al. Angiotensinogen polymorphisms and elevated blood pressure in the general population: the Copenhagen City Heart Study. Hypertension. 2001, 3. pp. 875-881.
38. Sethi A. A. et al. Angiotensinogen single nucleotide polymorphisms, elevated blood pressure, and risk of cardiovascular disease. Hypertension. 2003, 6, pp. 102-111.
39. Schmidt S. et al. Association of M235T variant of the angio-tensinogen gene with familial hypertension of early onset. Nephrol. Dial. Transplant. 1995, 7, pp. 1145-1148.
40. Tiret L., Poirier O., Hallrt V., et al. The Lys198Asn polymorphism in the endothelin-1 gene is associated with blood pressure in overweight people. Hypertension. 1999, 33. pp. 1169-1174.
41. World Health Organization. Global status report on noncommunicable diseases 2010. Geneva. World Health Organization. 2011, pp. 221.
42. Wenzel K. et al. Relationship of polymorphisms in the renin-angiotensin system and in E-selectin of patients with early severe coronary heart disease. J. Mol. Med. 1997, 75, pp. 57-61.
43. Wang X. L., Wang J. Endothelial nitric oxide synthase gene sequence variations and vascular disease. Molec. Genet. and Metabol. 2000, 70(4), pp. 241–251.
44. Zafarmand M. H., Nijdam M. E., Franx A. et al. The angiotensinogen gene M235T polymorphism and development of preeclampsia /eclampsia: a meta-analysis and meta-regression of observational studies. J. Hypertens. 2008, 26, pp. 1726-1734.
45. Zafarmand H. M. et al. The M235T Polymorphism in the AGT Gene and CHD Risk: Evidence of a Hardy-Weinberg Equilibrium Violation and Publi-cation Bias in a Meta-Analysis. Cardiо. J. S. 2008, 15, pp. 25-30.
46. Zhang R., Min W., Sessa W.C. Functional analysis of the human endothelial nitric oxide synthase promoter. Sp1 and GATA factors are necessary for basal transcription in endothelial cells. J. Biol. Chem. 1995, 270(25), pp. 15320–15326.

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Маркабаева А. М. Роль полиморфизма генов в реализации артериальной гипертензии / / Наука и Здравоохранение. 2015. № 4. С. 77-84.