4G/5G polymorphism and haplotypes of SERPINE1 in atherosclerotic diseases of coronary arteries

Thrombosis and Haemostasis

Volumn 103, Issue 6, 2010, Pages 1170-1180

  Koch, Werner ^a,b   Schrempf, Matthias ^a,b   Erl, Anna ^a,b   Mueller, Jakob C ^c   Hoppmann, Petra ^a,b   Schömig, Albert ^a,b   Kastrati, Adnan ^a,b  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c MAX PLANCK INSTITUTE FOR ORNITHOLOGY   (Germany)

Author keywords

Coronary artery disease; Genetic risk; Meta analysis; Myocardial infarction; Plasminogen activator inhibitor 1

Indexed keywords

PLASMINOGEN ACTIVATOR INHIBITOR 1; SERPINE1 PROTEIN, HUMAN;

ACUTE CORONARY SYNDROME; ARTICLE; CASE CONTROL STUDY; CORONARY ARTERY ATHEROSCLEROSIS; GENE; GENE LOCUS; GENETIC RISK; GENOTYPE; HAPLOTYPE; HEART INFARCTION; HUMAN; ISCHEMIC HEART DISEASE; PRIORITY JOURNAL; SERPINE1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; ANIMAL; CORONARY ARTERY DISEASE; FEMALE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETICS; GERMANY; IMMUNOLOGY; MALE; META ANALYSIS; MIDDLE AGED; MUTATION; PATHOPHYSIOLOGY;

AGED; ANIMALS; CORONARY ARTERY DISEASE; FEMALE; GENETIC ASSOCIATION STUDIES; GERMANY; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOCARDIAL INFARCTION; PLASMINOGEN ACTIVATOR INHIBITOR 1; POLYMORPHISM, GENETIC;

EID: 77953152660     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH09-10-0702     Document Type: Article

References (75)

1. Kohler HP, Grant PJ. Plasminogen-activator inhibitor type 1 and coronary artery disease. N Engl J Med 2000; 342: 1792-1801.
2. Dellas C, Loskutoff DJ. Historical analysis of PAI-1 from its discovery to its potential role in cell motility and disease. Thromb Haemost 2005; 93: 631-640.
3. Smith A, Patterson C, Yarnell J, et al. Which hemostatic markers add to the predictive value of conventional risk factors for coronary heart disease and ischemic stroke? The Caerphilly study. Circulation 2005; 112: 3080-3087.
4. Binder BR, Mihaly J, Prager GW. uPAR - uPA - PAI-1 interactions and signaling: A vascular biologist's view. Thromb Haemost 2007; 97: 336-342.
5. Rau JC, Beaulieu LM, Huntington JA, et al. Serpins in thrombosis, hemostasis and fibrinolysis. J Thromb Haemost 2007; 5 (Suppl 1): 102-115.
6. Ha H, Oh EY, Lee HB. The role of plasminogen activator inhibitor 1 in renal and cardiovascular diseases. Nat Rev Nephrol 2009; 5: 203-211.
7. Rijken DC, Lijnen HR. New insights into the molecular mechanisms of the fibrinolytic system. J Thromb Haemost 2009; 7: 4-13.
8. Stefansson S, Lawrence DA, Argraves WS. Plasminogen activator inhibitor-1 and vitronectin promote the cellular clearance of thrombin by low density lipoprotein receptor-related proteins 1 and 2. J Biol Chem 1996; 271: 8215-8220.
9. Kietzmann T, Andreasen P. Plasminogen activator inhibitor-1 (PAI-1): A molecule at the crossroads to cell survival or cell death. Thromb Haemost 2008; 100: 965-968.
10. Balsara RD, Ploplis VA. Plasminogen activator inhibitor-1: The double-edged sword in apoptosis. Thromb Haemost 2008; 100: 1029-1036.
11. Stefansson S, Lawrence DA. The serpin PAI-1 inhibits cell migration by blocking integrin áVâ3 binding to vitronectin. Nature 1996; 383: 441-443.
12. Diebold I, Kraicun D, Bonello S, et al. The 'PAI-1 paradox' in vascular remodelling. Thromb Haemost 2008; 100: 984-991.
13. Lijnen HR. Pleiotropic functions of plasminogen activator inhibitor-1. J Thromb Haemost 2005; 3: 35-45.
14. Kruithof EKO. Regulation of plasminogen activator inhibitor type 1 gene expression by inflammatory mediators and statins. Thromb Haemost 2008; 100: 969-975.
15. Samarakoon R, Higgins PJ. Integration of non-SMAD and SMAD signaling in TGF-β1-induced plasminogen activator inhibitor type-1 gene expression in vascular smooth muscle cells. Thromb Haemost 2008; 100: 976-983.
16. Dimova EY, Kietzmann T. Metabolic, hormonal and environmental regulation of plasminogen activator inhibitor-1 (PAI-1) expression: Lessons from the liver. Thromb Haemost 2008; 100: 992-1006.
17. Nagamine Y. Transcriptional regulation of the plasminogen activator inhibitor type 1 - with an emphasis on negative regulation. Thromb Haemost 2008; 100: 1007-1013.
18. Dawson SJ, Wiman B, Hamsten A, et al. The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells. J Biol Chem 1993; 268: 10739-10745. (Pubitemid 23162248)
19. Ye S, Green FR, Scarabin PY, et al. The 4G/5G genetic polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene is associated with differences in plasma PAI-1 activity but not with risk of myocardial infarction in the ECTIM study. Thromb Haemost 1995; 74: 837-841.
20. Eriksson P, Kallin B, van't Hooft FM, et al. Allele-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction. Proc Natl Acad Sci USA 1995; 92: 1851-1855.
21. Mansfield MW, Stickland MH, Grant PJ. Plasminogen activator inhibitor-1 (PAI-1) promoter polymorphism and coronary artery disease in non-insulin-dependent diabetes. Thromb Haemost 1995; 74: 1032-1034.
22. Ridker PM, Hennekens CH, Lindpaintner K, et al. Arterial and venous thrombosis is not associated with the 4G/5G polymorphism in the promoter of the plasminogen activator inhibitor gene in a large cohort of US men. Circulation 1997; 95: 59-62. (Pubitemid 27029943)
23. Ossei-Gerning N, Mansfield MW, Stickland MH, et al. 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 Vasc Biol 1997; 17: 33-37. (Pubitemid 27057321)
24. Burzotta F, Di Castelnuovo A, Amore C, et al. 4G/5G polymorphism in the promoter region of the PAI-1 gene is not a risk factor for familial myocardial infarction in subjects over 45 years. Thromb Haemost 1997; 78: 1294-1295.
25. Junker R, Heinrich J, Schulte H, et al. Plasminogen activator inhibitor-1 4G/5G-polymorphism and factor V Q506 mutation are not associated with myocardial infarction in young men. Blood Coagul Fibrinolysis 1998; 9: 597-602. (Pubitemid 28520156)
26. Iwai N, Shimoike H, Nakamura Y, et al. The 4G/5G polymorphism of the plasminogen activator inhibitor gene is associated with the time course of progression to acute coronary syndromes. Atherosclerosis 1998; 136: 109-114.
27. Pastinen T, Perola M, Niini P, et al. Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population. Hum Mol Genet 1998; 7: 1453-1462.
28. Sugano T, Tsuji H, Masuda H, et al. Plasminogen activator inhibitor-1 promoter 4G/5G genotype is not a risk factor for myocardial infarction in a Japanese population. Blood Coagul Fibrinolysis 1998; 9: 201-204.
29. Gardemann A, Lohre J, Katz N, et al. The 4G4G genotype of the plasminogen activator inhibitor 4G/5G polymorphism is associated with coronary atherosclerosis in patients at high risk for this disease. Thromb Haemost 1999; 82: 1121-1126. (Pubitemid 29419730)
30. Anderson JL, Muhlestein JB, 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; 34: 1778-1783.
31. Doggen CJM, Bertina RM, Cats VM, et al. The 4G/5G polymorphism in the plasminogen activator inhibitor-1 gene is not associated with myocardial infarction. Thromb Haemost 1999; 82: 115-120. (Pubitemid 29368783)
32. Ardissino D, Mannucci PM, Merlini PA, et al. Prothrombotic genetic risk factors in young survivors of myocardial infarction. Blood 1999; 94: 46-51. (Pubitemid 29300133)
33. Beneš P, Mužík J, Benedík J, et al. Single effects of apolipoprotein B, (a), and E polymorphisms and interaction between plasminogen activator inhibitor-1 and apolipoprotein(a) genotypes and the risk of coronary artery disease in Czech male caucasians. Mol Genet Metab 2000; 69: 137-143.
34. Song J, Yoon YM, Jung HJ, et al. Plasminogen activator inhibitor-1 4G/5G promoter polymorphism and coagulation factor VII Arg353→Gln polymorphism in Korean patients with coronary artery disease. J Korean Med Sci 2000; 15: 146-152.
35. 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; 84: 78-82. (Pubitemid 30433672)
36. Viitanen L, Pihlajamäki J, Halonen P, et al. Association of angiotensin converting enzyme and plasminogen activator inhibitor-1 promoter gene polymorphisms with features of the insulin resistance syndrome in patients with premature coronary heart disease. Atherosclerosis 2001; 157: 57-64.
37. Fu L, Jin H, Song K, et al. Relationship between gene polymorphism of the PAI-1 promoter and myocardial infarction. Chin Med J 2001; 114: 266-269. (Pubitemid 33611214)
38. Yamada Y, Izawa H, Ichihara S, et al. Prediction of the risk of myocardial infarction from polymorphisms in candidate genes. N Engl J Med 2002; 347: 1916-1923.
39. Hindorff LA, Schwartz SM, Siscovick DS, et al. The association of PAI-1 promoter 4G/5G insertion/deletion polymorphism with myocardial infarction and stroke in young women. J Cardiovasc Risk 2002; 9: 131-137.
40. Atherosclerosis, thrombosis, and vascular biology Italian study group. No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age. Circulation 2003; 107: 1117-1122.
41. Leander K, Wiman B, Hallqvist J, et al. PAI-1 level and PAI-1 4G/5G polymorphism in relation to risk of non-fatal myocardial infarction: results from the Stockholm Heart Epidemiology Program (SHEEP). Thromb Haemost 2003; 89: 1064-1071. (Pubitemid 36798159)
42. Juhan-Vague I, Morange PE, Frere C, et al.; on behalf of the HIFMECH Study Group. The plasminogen activator inhibitor-1 -675 4G/5G genotype influences the risk of myocardial infarction associated with elevated plasma proinsulin and insulin concentrations in men from Europe: the HIFMECH study. J Thromb Haemost 2003; 1: 2322-2329.
43. Crainich P, Jenny NS, Tang Z, et al. Lack of association of the plasminogen activator inhibitor-1 4G/5G promoter polymorphism with cardiovascular disease in the elderly. J Thromb Haemost 2003; 1: 1799-1804.
44. Petrovic D, Globocnik-Petrovic M, Peterlin B. 4G4G genotype of PAI-1 gene promoter polymorphism is not associated with myocardial infarction in Caucasians with type-2 diabetes. Cardiology 2003; 100: 157-158.
45. Zhan M, Zhou Y, Han Z. Plasminogen activator inhibitor-1 4G/5G gene polymorphism in patients with myocardial or cerebrovascular infarction in Tianjin, China. Chin Med J 2003; 116: 17071.
46. Tobin MD, Braund PS, Burton PR, et al. Genotypes and haplotypes predisposing to myocardial infarction: a multilocus case-control study. Eur Heart J 2004; 25: 459-467.
47. ter Bogt NCW, Hoekstra T, Roest M, et al. The 4G-allele of the PAI-1 gene is not consistently associated with a higher prevalence of coronary stenosis. J Thromb Haemost 2004; 2: 1668-1670.
48. McCarthy JJ, Parker A, Salem R, et al; for the GeneQuest Investigators. Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of 111 candidate genes. J Med Genet 2004; 41: 334-341.
49. Whiting BM, Anderson JL, Muhlestein JB, et al; for the Intermountain Heart Collaborative (IHC) Study Group. Candidate gene susceptibility variants predict intermediate end points but not angiographic coronary artery disease. Am Heart J 2005; 150: 243-250.
50. Pegoraro RJ, Ranjith N. Plasminogen activator inhibitor type 1 (PAI-1) and platelet glycoprotein IIIa (PGIIIa) polymorphisms in young Asian Indians with acute myocardial infarction. Cardiovasc J S Afr 2005; 16: 266-270. (Pubitemid 41789595)
51. Su S, Chen S, Zhao J, et al. Plasminogen activator inhibitor-1 gene: selection of tagging single nucleotide polymorphisms and association with coronary heart disease. Arterioscler Thromb Vasc Biol 2006; 26: 948-954.
52. Ding J, Nicklas BJ, Fallin MD, et al. Plasminogen activator inhibitor type 1 gene polymorphisms and haplotypes are associated with plasma plasminogen activator inhibitor type 1 levels but not with myocardial infarction or stroke. Am Heart J 2006; 152: 1109-1115.
53. Agirbasli D, Agirbasli M, Williams SM, et al. Interaction among 5,10 methylenetetrahydrofolate reductase, plasminogen activator inhibitor and endothelial nitric oxide synthase gene polymorphisms predicts the severity of coronary artery disease in Turkish patients. Coron Artery Dis 2006; 17: 413-417.
54. Morgan TM, Krumholz HM, Lifton RP, et al. Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study. J Am Med Assoc 2007; 297: 1551-1561.
55. Sampaio MF, Hirata MH, Hirata RD, et al. AMI is associated with polymorphisms in the NOS3 and FGB but not in PAI-1 genes in young adults. Clin Chim Acta 2007; 377: 154-162.
56. Taymaz H, Erarslan S, Öner ET, et al. Sequence variations within the genes related to hemostatic imbalance and their impact on coronary artery disease in Turkish population. Thromb Res 2007; 119: 55-62.
57. Saely CH, Muendlein A, Vonbank A, et al. Type 2 diabetes significantly modulates the cardiovascular risk conferred by the PAI-1 -675 4G/5G polymorphism in angiographied coronary patients. Clin Chim Acta 2008; 396: 18-22.
58. Sarecka B, Zak I, Krauze J. Synergistic effects of the polymorphisms in the PAI-1 and IL-6 genes with smoking in determining their associated risk with coronary artery disease. Clin Biochem 2008; 41: 467-473.
59. Onalan O, Balta G, Oto A, et al. Plasminogen activator inhibitor-1 4G4G genotype is associated with myocardial infarction but not with stable coronary artery disease. J Thromb Thrombolysis 2008; 26: 211-217.
60. Kathiresan S, Gabriel SB, Yang Q, et al. Comprehensive survey of common genetic variation at the plasminogen activator inhibitor-1 locus and relations to circulating plasminogen activator inhibitor-1 levels. Circulation 2005; 112: 1728-1735.
61. Chalmers J, MacMahon S, Mancia G, et al. 1999 World Health Organization-International Society of Hypertension Guidelines for the management of hypertension. Guidelines sub-committee of the World Health Organization. Clin Exp Hypertens 1999; 21: 1009-1060. (Pubitemid 29325497)
62. World Health Organization Study Group. Diabetes mellitus. WHO Tech Rep Ser 1985; 727: 1-104.
63. Martini CH, Doggen CJM, Cavallini C, et al. No effect of polymorphisms in prothrombotic genes on the risk of myocardial infarction in young adults without cardiovascular risk factors. J Thromb Haemost 2005; 3: 177-179.
64. Morange PE, Saut N, Alessi MC, et al. Association of plasminogen activator inhibitor (PAI)-1 (SERPINE1) SNPs with myocardial infarction, plasma PAI-1, and metabolic parameters: the HIFMECH study. Arterioscler Thromb Vasc Biol 2007; 27: 2250-2257.
65. Zak I, Balcerzyk A, Sarecka B, et al. Contemporaneous carrier-state of two or three ?proatherosclerotic? variants of APOE, ICAM1, PPARA and PAI-1 genes differentiate CAD patients from healthy individuals. Clin Chim Acta 2005; 362: 110-118.
66. Stroup DF, Berlin JA, Morton SC, et al; for the Meta-analysis Of Observational Studies in Epidemiology (MOOSE) Group. Meta-analysis of observational studies in epidemiology: a proposal for reporting. J Am Med Assoc 2000; 283: 2008-2012
67. Tregouet DA, Garelle V. A new JAVA interface implementation of THESIAS: testing haplotype effects in association studies. Bioinformatics 2007; 23: 1038-1039.
68. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials 1986; 7: 177-188.
69. Higgins JPT, Thompson SG, Deeks JJ, et al. Measuring inconsistency in meta-analyses. Br Med J 2003; 327: 557-560.
70. Iacoviello L, Burzotta F, Di Castelnuovo A, et al. The 4G/5G polymorphism of PAI-1 promoter gene and the risk of myocardial infarction: a meta-analysis. Thromb Haemost 1998; 80: 1029-1030. (Pubitemid 28556713)
71. Boekholdt SM, Bijsterveld NR, Moons AHM, et al. Genetic variation in coagulation and fibrinolytic proteins and their relation with acute myocardial infarction: a systematic review. Circulation 2001; 104: 3063-3068.
72. Ye Z, Liu EHC, Higgins JPT, et al. Seven haemostatic gene polymorphisms in coronary disease: meta-analysis of 66 155 cases and 91 307 controls. Lancet 2006; 367: 651-658.
73. Thygesen K, Alpert JS, White HD on behalf of the joint ESC/ACCF/AHA/WHF task force for the redefinition of myocardial infarction. Universal definition of myocardial infarction. Eur Heart J 2007; 28: 2525-2538.
74. Asselbergs FW, Williams SM, Hebert PR, et al. The gender-specific role of polymorphisms from the fibrinolytic, renin-angiotensin, and bradykinin systems in determining plasma t-PA and PAI-1 levels. Thromb Haemost 2006; 96: 471-477.
75. Asselbergs FW, Williams SM, Hebert PR, et al. The effects of polymorphisms in genes from the renin-angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels are dependent on environmental context. Hum Genet 2007; 122: 275-281.