Clinical Relevance of Polymorphic Markers of Arterial Thrombosis

Giovanni Di Minno; Elvira Grandone; Maurizio Margaglione

doi:10.1055/s-0038-1657570

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1997; 78(01): 462-466
DOI: 10.1055/s-0038-1657570

Genetic determinants of the risk of arterial thrombosis

Schattauer GmbH Stuttgart

Clinical Relevance of Polymorphic Markers of Arterial Thrombosis

Giovanni Di Minno

Chair of Geriatrics, University of Palermo; l.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, and Dept. of Clinical and Experimental Medicine, “Federico ll” University, Naples, ltaly

,

Elvira Grandone

Chair of Geriatrics, University of Palermo; l.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, and Dept. of Clinical and Experimental Medicine, “Federico ll” University, Naples, ltaly

,

Maurizio Margaglione

Chair of Geriatrics, University of Palermo; l.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, and Dept. of Clinical and Experimental Medicine, “Federico ll” University, Naples, ltaly

› Author Affiliations

Abstract

PDF Download

PDF (1041 kb)

References

References
1 Goldbourt U, Neufeld HN. Genetic aspect of arteriosclerosis. Arteriosclerosis 1986; 6: 357-377
2 Parra HJ, Arveiler D, Evans AE, Cambou JP, Amouyel P, Bingham A, McMaster D, Schaffer P, Douste-Blazy P, Luc G, Richard JL, Ducimetière P, Fruchart JC, Cambien F. A case-control study of lipoprotein particles in two populations at contrasting risk for coronary heart disease. Arterioscler. Thromb 1992; 12: 701-707
3 Miletich JP, Prescott SM, White R, Majerus PW, Bovill EG. Inherited predisposition to thrombosis. Cell 1993; 72: 477-480
4 Melissari E, Monte G, Lindo VS, Pemberton KD, Wilson NV, Edmonson R, Das S, Kakkar VV. Congenital thrombophilia among patients with venous thromboembolism. Blood Coag. Fibrinolysis 1992; 03: 749-758
5 Reitsma PH, Poort SR, Bernardi F, Gandrille S, Long GL, Sla N, Cooper DN. Protein C deficiency. A data base of mutations. 1995 update. For the protein C and the protein S Subcommittee of the scientific and standardization Committe of the International Society on Thrombosis and Haemostasis. Thromb. Haemost 1995; 73: 876-889
6 Pabinger I, Brucker S, Kyrle PA, Schneider B, Korninger HC, Niessner H, Lechner K. Hereditary deficiency of antithrombin III, Protein C and protein S: prevalence in patients with a history of venous thrombosis and criteria for rationale screening. Blood Coag. Fibrinolysis 1992; 03: 547-553
7 Lane DA, Olds RJ, Boisclair M, Chowdhury V, Thein SL, Cooper DN, Blajchman M, Perry D, Emmerich J, Aiach M. Antithrombin III mutation database. First update. For the Thrombin and its inhibitors Subcommittee of the scientific and standardization Committe of the International Society on Thrombosis and Haemostasis. Thromb. Haemost 1993; 70: 361-369
8 Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a astudy of the SSC Subcommitte on fibrinogen. Thromb.Haemost 1995; 73: 151-161
9 Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-67
10 Ernst E, Resch KL. Fibrinogen as a cardiovascular risk factor: a meta-analysis and review of the literature. Ann. Int. Med 1993; 118: 956-963
11 Meade TW, Mellows S, Brozovic M, Miller GJ, Chakrabarti RR, North WRS, Haines AP, Stirling Y, Imeson JD, Thompson SG. Hemostatic function and ischemic heart disease: Principal results of the Northwick Park Study. Lancet 1986; 2: 533-537
12 Ridker PM, Vaughan DE, Stampfer MJ, Manson JE, Hennekens CH. Endogenous tissue-type plasminogen activator and risk of myocardial infarction. Lancet 1993; 341: 1165-1168
13 Hamsten A, De FaireU, Walldius G, Dahlen G, Szamosi A, Landou C, Blomback M, Wiman B. Plasminogen activator inhibitor in plasma: risk factor for recurrent myocardial infarction. Lancet 1987; 02: 3-9
14 Kannel WB. Range of serum cholesterol values in the population developing coronary artery disease. Am. J. Cardiol 1995; 76: 69C-77C
15 Schaefer EJ, Lamon-Fava S, Jenner JL, McNamara JL, Ordovas JM, Davis CE, Abolafia JM, Lippel K, Levy RI. Lipoprotein(a) levels and risk of coronary heart disease in men. The Lipid Research Clinics Coronary Primary Prevention Trial. JAMA 1994; 271: 999-1003
16 Tomvall P, Bavenholm P, Landou C, de FaireU, Hamsten A. Relation of plasma levels and composition of apolipoprotein B-containing lipoproteins to angiographically defined coronary artery disease in young patients with myocardial infarction. Circulation 1993; 88 (part 1) 2180-2189
17 Davignon J. Apolipoprotein E polymorphism and atherosclerosis. In: Born GVR, Schwartz CJ. eds. New horizons in coronary heart disease. London UK: Science Press Ltd; 1993. 05. 1-5.21
18 Dallongeville J, Lussier-Cacan S, Davignon J. Modulation of plasma triglyceride levels by apo E phenotype: a metaanalysis. J. Lipid Res 1992; 33: 447-454
19 Wilson PWF, Schaefer EJ, Larson MG, Ordovas JM. Apolipoprotein E alleles and risk of coronary disease. A metaanalysis. Arterioscler. Thromb. Vase. Biol 1996; 16: 1250-1255
20 Schachter F, Faure-Delanef L, Guenot F, Rouger H, Froguel R, Lesueur-Ginot L, and Cohen D. Genetic associations with human longevity at the Apo E and ACE loci. Nat. Genet 1994; 6: 29-32
21 Siest G, Pillot T, Regis-Bailly A, Leininger-Muller B, Steinmetz J, Galteau M, Visvikis S. Apoprotein E: an important gene and protein to follow in laboratory medicine. Clin. Chem. 1995; 41: 1068-1086
22 Cambien F, Soubrier F. The angiotensin-converting enzyme: molecular biology and implication of the gene polymorphism in cardiovascular diseases. In: Hypertension, pathophysiology and management. Second Edition Raven Press LTD; New York, Larg JH: Brenner BM. Eds, 1995. pp 1667-1682
23 Cambien F, Alhenc-Gales F, Herberth B, Andre JL, Rakotovao R, Gonzales MF, Allegrini J, Bloch C. Familial resemblance of plasma angiotensin-converting enzyme level: the Nancy study. Am. J. Hum. Genet 1988; 43: 774-780
24 Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Sourbrier F. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounts for half of the variance of serum enzyme levels. J. Clin. Invest 1990; 86: 1343-1346
25 Coxterousse O, Allegrini J, Lopez M, Alheno-Gelas F. Angiotensin I-converting enzyme in the human circulating mononuclear cells: genetic polymorphism of expression in T lymphocytes. Biochem. J 1993; 290: 33-40
26 Samani N, Thompson JR, O’Toole L, Channer K, Woods KL. A meta-analysis of the association of the deletion allele of the angiotensin-converting enzyme gene with myocardial infarction. Circulation 1996; 94: 708-712
27 Margaglione M, Grandone E, Mancini FP, Di MinnoG. Genetic modulation of plasma fibrinogen concentrations: possible importance of interleukin-6. J. Thromb. Thrombolysis 1996; 3: 51-56
28 Thomas AE, Lamlum H, Humphries SE, Green F. Linkage disequilibrium across the fibrinogen locus as shown by five genetic polymorphisms, G/A^-455(Haelll), C/T^-148(HindIII/AluI), T/ G^+l689(Avail), and Bell (b-Fibrinogen) and TaqI (a-Fibrinogen), and their detection by PCR. Hum. Mutation 1994; 03: 79-81
29 Huber P, Laurent M, Dalmon J. Human β fibrinogen gene expression. Upstream sequences involved in its tissue specific expression and its dexametasone and interleukin 6 stimulation. J. Biol. Chem 1990; 265: 5695-5701
30 Di MinnoG, Mancini M. Measuring plasma fibrinogen to pre diet stroke and myocardial infarction. Arteriosclerosis 1990; 10: 1-7
31 Meade TW, Imeson J, Stirling Y. Effects of changes in smoking and other charateristies on clotting factors and the risk of ischemic heart disease. Lancet 1987; ii: 986-988
32 Green F, Kelleher C, Wilkes H, Temple A, Meade T, Humphries S. A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Arterioscler. Thromb 1991; 11: 540-546
33 Humpries S, Lane A, Green F, Cooper J, Miller GJ. Factor VII coagulant activity and antigen levels in healthy men are determined by interaction between factor VII genotype and plasma trigliceride concentrations. Arterioscler. Thromb 1994; 14: 193-198
34 Saha N, Liu Y, Heng CK, Hong S, Low PS, Tay JSH. Association of factor VII genotype with plasma factor VII activity and antigen levels in healthy indian adults and interaction with triglycerides. Arterioscler. Thromb 1994; 14: 1923-1927
35 Bernardi F, Marchetti G, Pinotti M, Arcieri P, Baroncini C, Papacchini M, Zepponi E, Ursicino N, Chiarotti F, Mariani G. Factor VII gene polymorphisms contribute about one third of the factor VII level variation in plasma. Arterioscler. Thromb. Vase. Biol 1996; 16: 72-76
36 Hey woodDM, Mansfield MW, Grant PJ. Factor VII polymorphism, factor VII:C levels and features of insulin resistance in non-insulin-dependent diabetes mellitus. Thromb. Haemost 1996; 75: 401-406
37 Dawson SJ, Wiman B, Hamsten A, Green F, Humphries S, Henney AM. 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
38 Eriksson P, Kallin B, van t’ HooftFM, Bavhenolm P, Hamsten A. Allelic-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
39 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
40 Ye S, Green FR, Scarabin PJ, Nicaud V, Bara L, Dowson SJ, Humphries SE, Evans A, Luc G, Cambou JP, Arveiler D, Henney AM, Cambien F. 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 the risk of myocardial infarction in the ECTIM study. Thrombos. Haemost 1995; 74: 837-41
41 Panahloo A, Mohamed-Ali V, Lane A, Green F, Humphries SE, Yudkin JS. Determinants of plasminogen activator inhibitor 1 activity in treated NIDDM and its relation to a polymorphism in the plasminogen activator inhibitor-1 gene. Diabetes 1995; 44: 37-42
42 Margaglione M, Grandone E, Vecchione G, Cappucci G, Giuliani N, Colaizzo N, Celentano E, Panico S, Di MinnoG. Plasminogen activator inhibitor-1 (PAI-1) antigen plasma levels in subjects attending a metabolic ward. Relation to polymorphisms of the PAI-1 and of the angiotensin converting enzyme (ACE) genes. Arterioscler Thromb. Vase. Biol 1997 (in press)
43 Yoshida H, Mitarai T, Kawamura T, Kitajima T, Miyazaki Y, Nagasawa R, Kawaguchi Y, Kubo H, Ichikawa I, Sakai O. Role of the deletion polymorphism of the angiotensin conveting enzyme gene in the progression and therapeutic responsiveness of IgA nephropaty. J. Clin. Invest 1995; 96: 2162-2169
44 Carmena R, Roederer G, Mailloux H, Lussier-Cacan S, Davignon J. The response to lovastatin treatment in patients with heterozygous familial hypercholesterolemia is modulated by apolipoprotein E polymorphism. Metabolism 1993; 42: 895-901
45 Nestruck AC, Bouthillier D, Sing CF, Davignon J. Apolipoprotein E Polymorphism and plasma cholesterol response to probucol. Metabolism 1987; 08: 743-747
46 Cambien F, Poirier O, Lecerf L, Evans A, Cambou JP, Arveiler D, Luc G, Bara L, Ricard S, Tiret L, Amouyel P, Alhenc-Gelas F, Soubrier F. Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature 1992; 359: 641-644
47 Margaglione M, Celentano E, Grandone E, Vecchione G, Cappucci G, Giuliani N, Colaizzo D, Panico S, Mancini FP, Di MinnoG. Deletion Polymorphism of the angiotensin converting enzyme gene in patients with a history of ischemic stroke. Arterioscl. Thrombos. Vase. Biol 1996; 16: 304-309
48 Reynolds MV, Bristow MR, Bush EW, Abraham WT, Lowes BD, Zisman LS, Taft CS, Perryman MB. Angiotensin-converting enzyme DD genotype in patients with ischaemic or dilated cardiomyopathy. Lancet 1993; 342: 1073-1075
49 Marian AJ, Yu QT, Workman R, Greve G, Roberts R. Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death. Lancet 1993; 342: 1085-1086
50 Samani NJ, Martin DS, Brack M, Cullen J, Chauhan A, Lodwick D, Harley A, Swales JD, de BonoDP, Gershlick AH. insertion/ deletion polymorphism in the angiotensin-converting enzyme gene and risk of restenosis after coronary angioplasty. Lancet 1995; 345: 1013-1016
51 Kario K, Kanai N, Saito K, Nago N, Matsuo T, Shimada K. Ischemic stroke and the gen for angiotensin-converting enzyme in Japanese hypertensives. Circulation 1996; 93: 1630-1633
52 Maeda Y, Ikeda U, Ebata H, Hojo Y, Seino Y, Hayashi Y, Kuroki S, Shimada K. Angiotensin-converting enzyme gene in hypertensive individuals with parental history of stroke. Stroke 1996; 27: 1521-1523
53 Lindpaintner K, Pfeffer MA, Kreutz R, Stampfer MJ, Grodstein F, LaMotte F, Burig J, Hennekens CH. A prospective evaluation of angiotensin converting enzyme gene polymorphism and the risk of ischemic heart disease. N. Engl. J. Med 1995; 332: 706-711
54 Lindpainter K, Lee M, larson M, Rao VR, Pfeffer MA, Ordovas JM, Schaefer EJ, Wilson AF, Wilson PWF, Vasan RS, Myers RH, Levy D. Absence of association or genetic linkage between the angiotensin-converting enzyme gene and left ventricular mass. N. Engl. J. Med 1996; 334: 1023-1028
55 Friedlander Y, Elkana Y, Sinnreich R, Kark DJ. Genetic and environmental sources of fibrinogen variability in Israeli families: the Kibbutzim family study. Am. J. Hum. Genet 1995; 56: 1194-1206
56 Fowkes FGR, Connor JM, Smith FB, Wood J, Donnan PT, Lowe GDO. Fibrinogen genotype and risk of peripheral atherosclerosis. Lancet 1992; 339: 693-696
57 Behague I, Poirier O, Nicaud V, Evans A, Arveiler D, Luc G, Cambou JP, Scarabin PJ, Bara L, Green F, Cambien F. β-fibrinogen gene polymorphisms are associated with plasma fibrinogen and coronary artery disease in patients with myocardial infarction. The ECTIM study. Circulation 1996; 93: 440-449
58 Meilhan E, Ferrel R, Kiss J, Temple A, Green F, Humpries S, Kuller L. Genetic determination of coagulation factor VIIc levels among healthy middle-aged women. Thromb. Haemost 1995; 73: 623-625
59 Potter van Loo BJ, Kluft K, Raadder JK, Blankestein MA, Meinders AE. The cardiovascular risk factor plasminogen activator inhibitor type 1 is related to insulin resistance. Metabolism 1993; 42: 945-949
60 Ericsson CG, Hamsten A, Nilsson J, Grip L, Svane B, de Faire U. Angiographic assessment of effects of bezafibrate on progression of coronary artery disease in young male postinfarction patients. Lancet 1996; 347: 849-853
61 Di Minno G, Mancini FP, Margaglione M. Hemostatic variables and ischemic cardiovascular disease. Do we need a concerted effort for more profitable future clinical investigations. Cardiovasc.Drug. Ther 1996; 10: 743-749
62 Juhan-Vague I, Vague PH, Alessi MC, Badier C, Valadier J, Aillaud MF, Atlan C. Relationships between plasma insulin, triglyceride, body mass index, and plasminogen activator inhibitor-1. Diabetes Metab 1987; 13: 331-336
63 Tohgi H, Takahashi H, Chiba H, Tamura K. Coagulation-fibrinolysis system in poststroke patients receiving antiplatelet medication. Stroke 1993; 24: 801-804
64 Jain SK, Nagi DK, Slavin BM, Lumb PJ, Yudkin JS. Insulin therapy in type 2 diabetic subjects suppresses plasminogen activator inhibitor (PAI-1) activity and proinsulin-like molecules indipendently of glycaemic control. Diab. Med 1993; 10: 27-32
65 Nagi DK, Yudkin JS. Effect of metformin on insulin resistance, risk factors for cardiovascular disease, and plasminogen activator inhibitor in NIDDM subjects. Diabetes Care 1993; 16: 621-629