Molecular and genetic mechanisms of atherosclerosis and ischemic heart disease

Cover Page

Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

We genotyped polymorphisms from candidate genes in a prospective cohort of male patients (<=45 years old) for association with early-onset myocardial infarction in a case-control study (study 279 cases, 203 con­trols).

We tested single-nucleotide polymorphisms -455 G/A in fibrinogen gene, 4G/5G (-675 position) in plas- minogene activator inhibitor 1 gene, A1166C in gene of type 1 receptor of angiotensine II, G-6A in angiotensinogen gene, Sst I in apolipoprotein CIII gene, l/D polymorphism in angiotensin-converting enzyme gene, restrictive polymorphism in apolipoprotein E gene, PIA2 in platelet llb/llla receptor gene.

Results show that the PIA2 allele of platelet glycoprotein receptor llb/llla is a risk factor of young myocar­dial infarction in males and that carrying of PIA2/A2 genotype is a risk factor of sudden death because of thrombosis of coronary artery.

About the authors

О. A. Berkovich

I. P. Pavlov State Medical University

Author for correspondence.
Email: shabanov@mail.rcom.ru
Russian Federation, St. Petersburg

Е. A. Bazhenova

I. P. Pavlov State Medical University

Email: shabanov@mail.rcom.ru
Russian Federation, St. Petersburg

Е. V. Volkova

I. P. Pavlov State Medical University

Email: shabanov@mail.rcom.ru
Russian Federation, St. Petersburg

N. V. Khromova

I. P. Pavlov State Medical University

Email: shabanov@mail.rcom.ru
Russian Federation, St. Petersburg

О. D. Belayeva

I. P. Pavlov State Medical University

Email: shabanov@mail.rcom.ru
Russian Federation, St. Petersburg

О. I. Ignatyeva

I. P. Pavlov State Medical University

Email: shabanov@mail.rcom.ru
Russian Federation, St. Petersburg

V. I. Larionova

I. P. Pavlov State Medical University

Email: shabanov@mail.rcom.ru
Russian Federation, St. Petersburg

E. V. Shlyakhto

I. P. Pavlov State Medical University

Email: shabanov@mail.rcom.ru
Russian Federation, St. Petersburg

References

  1. Бурцев В.И, Коннова В А. Дифферинциальная профилактика повторного инфаркта миокарда //Клин. мед. 1999. № 8. С. 16.
  2. Зяблов Ю.И., Округин С.Д., Орлова С.Д. Острые коронарные катастрофы у лиц до 40 лет: результаты 10-летнего (1988-1997) наблюдения в Томске по программе ВОЗ «Регистр острого инфаркта миокарда» // Кардиология. 1999. № 11. С. 47-50.
  3. Константинов В.В., Жуковский В.С., Тимофеева Т.Н. и др. Динамика ишемической болезни сердца и факторов риска среди мужского населения Москвы за период с 1985 по 1995 г. // Тер. архив. 1997. № 1. С. 12-14.
  4. Кузнецова Т, Staessen J.A., WangJ.G. и др. Полиморфизм (типа вставка/отсутствие вставки) гена ангиотензинпревращающего фермента и риск сердечно-сосудистых и почечных заболеваний // Кардиология. 1998. № 7. С. 61-75.
  5. Agerholm-Larsen В., Nordestgaard B.G., Tybjerg-Hansen А. АСЕ gene polymorphism in cardio-vascular disease. Meta-analyses of small and large studies in whites // Arterioscler. Thromb. Vase. Biol. 2000. Vol. 20. P. 484-492.
  6. Alvarez R., Reguero J.R., Batalla A. et al. Angiotensin-converting enzyme and angiotensin II receptor 1 polymorphisms: association with early coronary disease // Cardiovasc. Res. 1998. Vol. 40 (2). P. 375-379.
  7. Anderson J.L., Muhlestein J.B., Habashi J. et al. Lack of association of a common polymorphism of the plasminogen activator inhibitor-1 gene with coronary artery disease and myocardial infarction // J. Am. Coll. Cardiol. 1999. Vol. 34 (6). P. 1778-1783.
  8. Anderson J.L., Muhlestein J.B., Habashi J. et al. Lack of association of a common polymorphism of the plasminogen activator inhibitor-1 gene with coronary artery disease and myocardial infarction // J. Am. Coll. Cardiol. 1999. Vol. 34 (6). P. 1778-1783.
  9. Ardissino D., Mannucci PM., Merlini P.A. et al. Prothrombotic genetic risk factors in young survivors of myocardial infarction // Blood. 1999. Vol. 94(1). P. 46-51.
  10. Bonnardeaux A., Davies E., Jeunemaitre X., Fe- ry I., Charru A., Glauser E. et al. Angiotensin II type I receptor gene polymorphisms in human essential hypertension // Hypertension. 1994. Vol. 24. P. 63-69.
  11. Brown N.J., Gainer J.V., Nadeau J.H., Vaughan DE. Plasminogen activator inhibitor antigen is increased in hypertensive African Americans with the ACE D allele // Circulation. 1995. Vol. 92 (suppl.). P. 1-552.
  12. Cambien E, Poirier O., Lecerf L. et al. Deletion polymorphism in the gene for angiotensine converting enzyme is a potent risk factor for myocardial infarction // Nature. 1992. Vol. 359. P. 641-644.
  13. Choudhury L., Marsh J. Myocardial infarction in young patients // Am. J. Med. 1999. Vol. 107. P. 254-261.
  14. Dawson S.J., Wiman B., Hamsten A. et al. The two-allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 gene respond differently to interleukin-1 in HepG2 cells // J. Biol. Chem. 1993. Vol. 268. P. 10739-10745.
  15. Doggen C.J.M., Bertina R.M., Cats V.M., Rosendaal F.R. Fibrinogen polymorphisms are not associated with the risk of myocardial infarction // British J. Haematology. 2000. Vol. 110. P. 935-938.
  16. Eriksson P, Kallin B., van’t Hooft F.M., В avenholm P, Hamsten A. Allele-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction // Proc. Natl. Acad. Sci. USA. 1995. Vol. 92. P. 1851-1855.
  17. Farmer J.A., Gotto A.M. Dyslipidemia and other risk factor for coronary artery disease / E. Braunwald, ed. // Heart Disease: A Text-book of Cardiovascular Medicine. Philadelphia: Saunders, 1997. P. 1126-1160.
  18. Fatini C., Abbate R., Pepe G. et al. Searching for a better assessment of the individual coronary risk profile: the role of angiotensin-converting enzyme, angiotensin II type 1 receptor and angiotensinogen gene polymorphisms // Eur. Heart J. 2000. Vol. 21. P. 633-63 8.
  19. Fernandez-Arcas N., Dieguez-Lucena J.L., Munoz-Moran E. et al. The genotype interactions of methylentetrahydrofolate reductase and reninangiotensin system genes are associated with myocardial infarction // Atherosclerosis. 1999. Vol. 145. P. 293-3 00.
  20. Ferns G.A.A., Stocks J., Ritchie C., Galton D.J. Genetic polymorphism of apolipoprotein C-III and insulin in survivors of myocardial infarction // Lancet. 1985. Vol. 2(8450). P. 300-303.
  21. Fournier J.A., Sanchez A., Quero J., Femandez-Cortacero J.A., Gonzalez-Barrero A. Myocardial infarction in men aged 40 years or less; a prospective clinical-angiographic study // Clin. Cardiology. 1996. Vol. 19. P. 631-63 6.
  22. Gardemann A., Humme J., Stricker J. et al. Association of the platelet glycoprotein Illa Р1А1/А2 gene polymorphism to coronary artery disease but not to nonfatal myocardial infarction in low risk patients // Thromb. Haemost. 1998. Vol. 80 (2). P. 214-217.
  23. Gardemann A., Schwartz O., Haberbosch W. et al. Positive association of the в fibrinogen H1/H2 gene variation to basal fibrinogen levels and to the increase in fibrinogen concentration during acute phase reaction but not to coronary artery disease and myocardial infarction // Thrombosis and Haemostasis. 1997. Vol. 77. P. 1120-1126.
  24. Gerdes L.U., Gerdes C., Kervinen K. et al. The apolipoprotein e4 allele determines prognosis and the effect on prognosis of simvastatin in survivors of myocardial infarction // Circulation. 2000. Vol. 101 (12). P. 1366-1380.
  25. Hagberg J.M., Wilund K.R., Ferrell RE. APO E gene and gene-environment effects on plasma lipoprotein-lipid levels // Physiol. Genomics. 2000. Vol. 4. P. 101-108.
  26. Havel R.J., Chao Y.S., Windier EE., Kotite L., Guo L.S.S. Isoprotein specificity in the hepatic uptake of apolipiprotein E and the pathogenesis of familial dysbetalipoproteinemia // Proc. Natl. Acad. Sci. USA. 1980. Vol. 77. P. 4349-4355.
  27. Hayden M.R., Kirk H, Campbell C. et al. DNA polymorphism in and around the Apo-Al-CIII genes and genetic hyperlipidemias // Am. J. Hum. Genet. 1987. Vol. 40. P. 421-430.
  28. Herron K.L., Lofgren IE., Adiconis X., Ordovas J.M., Fernandez ME. Associations between plasma lipid parameters and APOC3 and APOA4 genotypes in a healthy population are independent of dietary cholesterol intake // Atherosclerosis. 2006. Vol. 184 (1). P. 113-120.
  29. Hixon JE., Vernier D.T. Restriction isotyping of human apolipoprotein E by gene amplification and clevage with Hhal // J. Lipid. Res. 1990. Vol. 31. P. 545-548.
  30. Humphries S.E., Talmud P.J., Hawe E., Bolla M., Day IN., Miller G.J. Apolipoprotein E and coronary heart disease in middle-aged men who smoke: a prospective study // Lancet. 2001. Vol. 3 5 8 (9276). P. 115-119.
  31. Jalowiec D.A., Hill J.A. Myocardial infarction in the young and in women // Cardiovasc. Clin. 1989. Vol. 20. P. 197-206.
  32. Jeunemaitre X, Inoue I., Williams C. et al. Haplotypes of angiotensinogen in essential hypertension // Am. J. Hum. Genet. 1997. Vol. 60 (6). p. 1448-1460.
  33. Jong M.C., Hofker M.H., Havekes L.M. Role of apo Cs in lipoprotein metabolism. Functional differences between Apo Cl, Apo C2, and Apo C3 //Arterioscler. Thromb. Vase. Biol. 1999. Vol. 19. P. 472-484.
  34. Kastrati A., Koch W. K, Gavaz M. et al. PIA polymorphism of glycoprotein Illa and risk of adverse events after coronary stent placement // J. Am. Coll. Cardiol. 2000. Vol. 3 6 (1). P. 84-89.
  35. Keavney B., McKenzie C., Parish S., Palmer A., Clark S., Youngman L. et al. International Studies of Infarct Survival (ISIS) Collaborators. Large-scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/ deletion polymorphism and myocardial infarction in about 5000 cases and 6000 controls // Lancet. 2000. Vol. 355. P. 434-442.
  36. Kее F, Amouyel P, Fumeron F. et al. Lack of association between genetic variation of apo A-I-C-III-A-IV gene cluster and myocardial infarction in a sample of European male: ECTIM study //Atherosclerosis. 1999. Vol. 145 (1). P. 187-195.
  37. Kessler C., Spitzer C., Stauske D. et al. The apolipoprotein E and b-fibrinogen G/A -455 gene polymorphisms are associated with ischaemic stroke involving large-vessel disease // Arterioscler. Thromb. Vase. Biol. 1997. Vol. 17. P. 2880-2884.
  38. Kharrazi H., Vaisi Raygani A., Sabokroh A.R., Pourmotabbed T. Association between apolipoprotein E polymorphism and coronary artery dis¬ease in the Kermanshah population in Iran // Clin. Biochem. 2006. Vol. 39 (6). P. 613-616.
  39. Lahiri D.K., Bye S., Nurberger J.J.Jr. et al. // J. Biol. Chern, and Biophys. Methods. 1992. Vol. 25. P. 193-205.
  40. Mannucci P.M., Mari D., Merati G. et al. Gene polymorphisms predicting high plasma levels of coagulation and fibrinolisis proteins. A study in centenarians // Arterioscler. Thromb. Vase. Biol. 1997. Vol. 17 (4). P. 755-759.
  41. Mansfield M.W., Stiskland M.H., Grant PJ. Environmental and genetic factors in relation to elevated circulating levels of plasminogen activator inhibitor-1 in Caucasian patients with noninsulin-dependent diabetes mellitus // Thromb. Haemost. 1995. Vol. 74. P. 842-847.
  42. Margaglione M., Cappucci G., Colaizzo D. et al. The PAI-1 gene locus 4G/5G polymorphism is associated with family history of coronary artery disease // Arterioscler. Thromb. Vase. Biol. 1998. Vol. 18. P. 152-156.
  43. Margaglione M., Cappucci G., Colaizzo D. et al. Fibrinogen plasma levels in apparently healthy general population - relation to environmental and genetic determinants // Thromb. Haemost. 1998. Vol. 80 (5). P. 805-810.
  44. Mikkelsson J., Perola M., Laippala P et al. Glycoprotein Illa PIA polymorphism associates with progression of coronary artery disease and with myocardial infarction in an autopsy series of middle-aged men who died suddenly // Arterioscler. Thromb. Vase. Biol. 1999. Vol. 19. P. 2573-2578.
  45. Mikkelsson J., Perola M., Penttila A., Goldschmidt-Clermont PJ., Karhunen PJ. The GPIIIa (beta3 integrin) PIA polymorphism in early development of coronary atherosclerosis И Atherosclerosis. 2001. Vol. 154 (3). P. 721-727.
  46. Mikkelsson J., Perola M., Wartiovaara U. et al. Plasminogen activator inhibitor-1 (PAI-1) 4G/5G polymorphism, coronary thrombosis, and myocardial infarction in middle-aged finnish men who died suddenly // Thromb. Haemost. 2000. Vol. 84 (1). P. 78-82.
  47. Nakai K., Fusazaki T, Zhang T. et al. Polymorphism of the apolipoprotein E and ACE gene in Japanese patients with myocardial infarction // Coron. Artery Disease. 1998. Vol. 9 (6). P. 329-334.
  48. Nakauchi Y, Suehiro T, Yamamoto M. et al. Sig¬nificance of angiotensin 1-converting enzyme and angiotensin II type 1 receptor gene polymorphisms as risk factors for coronary heart disease //Atherosclerosis. 1996. Vol. 125. P. 161-169.
  49. Newman PJ., Derbes R.S., Aster R.H. The human platelet alloantigens PIA1 and PIA2 are associated with a leucine 33/proline33amino acid polymorphism in membrane glycoprotein Illa, and are distinguishable by DNA typing // J. Clin. Invest. 1989. Vol. 83 (5). P. 1778-1781.
  50. Nishiuma S., Kario K., Kayaba K. et al. Effect of the angiotensinogen gene Met235-Thr variant on blood pressure and other cardiovascular risk factors in two Japanese population // J. Hypertens. 1995. Vol. 13 (7). P. 717-722.
  51. Ossei-Gerning N, Mansfield M.W., Stickland M.H., Wilson I.J., Grant PJ. Plasminogen activator inhibitor-1 promoter 4G/5G genotype and plasma levels in relation to a history of myocardial infarction in patients characterized by coronary angiography // Arterioscler. Thromb. Vase. Biol. 1997. Vol. 17. P. 33-37.
  52. Rice G.I., Foy C.A., Grant PJ. Angiotensin converting enzyme and angiotensin II type 1-receptor gene polymorphisms and risk of ischaemic heart disease // Cardiovasc. Research. 1999. Vol. 41. P. 746-753.
  53. Ridker PM., Hennekens C.H., Lindpaintner K. et al. Arterial and venous thrombosis is not associated with 4G/5G polymorphism in the promoter of the plasminogen activator inhibitor gene in a large cohort of U.S. men // Circulation. 1997. Vol. 95. P. 59-62.
  54. Ridker P.M., Hennekens C.H., Schmitz C., Stampfer M.J., Lindpaintner К. PIA1/A2 polymorphism of platelet glycoprotein Illa and risk of myocardial infarction, stroke, and venous thrombosis // Lancet. 1997. Vol. 349. P. 385-388.
  55. Rigat B., Hubert C., Corvol P, Soubrier F PCR detection of the insertion/deletion polymorphism of the human angiotensin converting enzyme gene//Nucleic. Acid. Res. 1992. Vol. 20. P. 143 3.
  56. Rodriguez-Perez J.C., Rodriguez-Esparragon E, Hernandez-Perera O. et al. PROCAGENE Study Investigators. Association of angiotensinogen M235T and A(-6)G gene polymorphisms with coronary heart disease with independence of essential hypertension: the PROCAGENE study. Prospective Cardiac Gene // J. Am. Coll. Cardiol. 2001. Vol. 37 (6). P. 1536-1542.
  57. Scarabin P.Y, Aillaud M.E, Amouyel P. et al. Associations of fibrinogen, factor VII, and PAI-1 with baseline findings among 10,500 male participants in a prospective study of myocardial infarction-the PRIME Study. Prospective Epidemiological Study of Myocardial Infarction // Thromb. Haemost. 1998. Vol. 80 (5). P. 749-756.
  58. Scarabin P.Y, Bara L., Ricard S. et al. Genetic variation at the b-fibrinogen locus in relation to plasma fibrinogen concentrations and risk of myocardial infarction. The ECTIM Study / Arteriosclerosis and thrombosis. 1993. Vol. 13. P. 886-891.
  59. Senti M., Aubo C., Bosch M. et al. Platelet glycoprotein Ilb/IIIa genetic polymorphism is associated with plasma fibrinogen levels in myocardial infarction patients. The REGICOR Investigators // Clin. Biochem. 1998. Vol. 31 (8). P. 647-651.
  60. Sheu W.H.H., Lee W.J, Jeng C.Y et al. Angiotensinogen gene polymorphism is associated with insulin resistance in nondiabetic men with or without coronary heart disease // Am. Heart. J. 1998. Vol. 136(1). P. 125-131.
  61. Shoulders C.C., Harry P.J, Lagrost L. et al. Variation at the apo AI/CIII/AIV gene complex is associated with eleveted plasma levels of Apo CIII//Atherosclerosis. 1991. Vol. 8 7. P. 239-247.
  62. Sykes T.C.F., Fegan C, Mosquera D. Thrombophilia, polymorphisms, and vascular disease // J. Clin. Pathol. Mol. Pathol. 2000. Vol. 53. P. 300-306.
  63. Talmud P.J., Humphries S.E. Apolipoprotein C- III gene variation and dyslipidaemia // Curr. Opin. Lipidol. 1997. Vol. 8 (3). P. 154-158.
  64. Thogersen A.M., Jansson J.H., Boman K. et al. High plasminogen activator inhibitor and tissue plasminogen activator levels in plasma precede a fist acute myocardial infarction in both men and women // Circulation. 1998. Vol. 98. P. 2241-2247.
  65. Ту bjarg-Hans en A., Agerholm-Larsen B., Humphries S.E., Abildgaard S., Schnohr P. A common mutation (G-455—A) in the P-fibrinogen promoter is an independent predictor of plas¬ma fibrinogen, but not of ischemic heart disease. A study of 9,127 individuals based on The Copenhagen City Heart Study // J. Clin. Invest. 1997. Vol. 99. P. 3034-3039.
  66. Van der Вот J.G., de Maat M.P, Bots M.L., Haverkate E et al. Elevated plasma fibrinogen: cause or consequence of cardiovascular disease? // Arterioscler. Thromb. Vase. Biol. 1998. Vol. 18 (4). P. 621-625.
  67. Vblcik K.A., Barkley R.A., Hutchinson R.G. et al. Apolipoprotein E polymorphisms predict low density lipoprotein cholesterol levels and carotid artery wall thickness but not incident coronary heart disease in 12,491 ARIC study participants // Am. J. Epidemiol. 2006. Vol. 15. № 164 (4). P. 342-348.
  68. Waterworth D.M., Ribalta J., Nicaud V., Dallongeville J., Humphries S.E., Talmud P. Apo CIII gene variants modulate postprandial responce to both glucosae and fat tolerance tests // Circulation. 1999. Vol. 99. P. 1872-1877.
  69. Weiss E.J., Bray PE, Tayback M. et al. A polymorphism of platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis // New Engl. J. Med. 1996. Vol. 334 (17). P. 1090-1094.
  70. Wiwanitkit V. PLA1/A2 polymorphism of the platelet glycoprotein receptor Ilb/IIIa and its correlation with myocardial infarction: an appraisal // Clin. Appl. Thromb. Hemost. 2006. Vol. 12 (1). P. 93-95.
  71. Wu A.H., Tsongalis GJ. Correlation of polymorphisms to coagulation and biochemical risk factors for cardiovascular diseases // Am. J. Cardiol. 2001. Vol. 87 (12). P. 1361-1366.
  72. Zannis V.L, Kardassis D., Zanni E.E. Genetic mutations affecting human lipoproteins, their receptors and their enzymes // Advances in Hum. Genet. 1993. Vol. 21. P. 145-319.
  73. Zee R.Y., Cook N.R., Cheng S., Erlich HA., Lindpaintner K., Ridker PM. Multi-locus candidate gene polymorphisms and risk of myocardial infarction: a population-based, prospective genetic analysis // J. Thromb. Haemost. 2006. Vol. 4 (2). P. 341-348.

Supplementary files

Supplementary Files
Action
1. JATS XML

Copyright (c) 2007 Berkovich О.A., Bazhenova Е.A., Volkova Е.V., Khromova N.V., Belayeva О.D., Ignatyeva О.I., Larionova V.I., Shlyakhto E.V.



СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77 - 74760 от 29.12.2018 г.