PDF herunterladen
Thromb Haemost 2000; 83(02): 212-216
DOI: 10.1055/s-0037-1613788
Rapid Communication
Schattauer GmbH

Genetic Polymorphisms and Coronary Artery Disease in the South of France

I. Canavy
1   From the Dept. Cardiology, Marseille
,
M. Henry
2   Lab. Hematology, CHU Timone, Marseille
,
P. E. Morange
2   Lab. Hematology, CHU Timone, Marseille
,
L. Tiret
3   INSERM SC7, Paris, France
,
O. Poirier
3   INSERM SC7, Paris, France
,
A. Ebagosti
1   From the Dept. Cardiology, Marseille
,
M. Bory
1   From the Dept. Cardiology, Marseille
,
I. Juhan-Vague
2   Lab. Hematology, CHU Timone, Marseille
› Institutsangaben
Weitere Informationen

Publikationsverlauf

Received 16. Juni 1999

Accepted 22. Oktober 1999

Publikationsdatum:
11. Dezember 2017 (online)

Auch verfügbar auf
    Lizenzen und Reprints

Summary

Vascular disease is a multifactorial disease that involves atherosclerotic and thrombotic factors. Genetic polymorphisms have been associated with myocardial infarction and angina pectoris. The aim of the present study was to assess the relationship between some genetic polymorphisms and myocardial infarction (MI) or vasospastic angina pectoris in a population from southern France. Genetic polymorphisms of the renin angiotensin system (the D/I polymorphism of the ACE gene and the A1166C polymorphism of the angiotensin II type 1 receptor [AT1R]) and of haemostatic factors (the -675 4G/5G polymorphism of the plasminogen-activator inhibitor 1 [PAI-1] gene, and the G to T common point mutation in exon 2, codon 34 of the Factor XIII A-subunit gene) were examined.

We assessed the genotype distribution in consecutive coronary artery disease (CAD) patients with MI (n = 201) and vasospastic angina pectoris (n = 43) and in 244 healthy controls comparable in age, sex, body mass index and total cholesterol level.

The genotype distribution of AT1R polymorphism was significantly different between controls and patients, the prevalence of the C allele carriers being higher in patients with MI after the age of 45 than in control individuals (61 vs 45%, p <0.01), leading to an odds ratio (OR) of 2 (CI: 1.2-3.4). When looking at the group of patients with vasospastic angina the difference was even higher (76 vs 45%, p <0.01) yielding an OR of 4.3 (CI: 1.4-17.4). Genotype distributions of ACE, PAI-1 and Factor XIII polymorphisms were similar in patients and in controls.

This study is in favor of a role of AT1R gene polymorphism in myocardial infarction and vasospastic angina.

Keywords

Coronary artery disease - genetic polymorphisms - PAI - ACE - AT1R - Factor XIII
 

  • References

  • 1 Ueda S, Elliott HL, Morton JJ, Connell JM. Enhanced pressor response to angiotensin I in normotensive men with the deletion genotype (DD) for angiotensin-converting enzyme. Hypertension 1995; 25: 1266-9.
    CrossrefPubMedSuche in Google Scholar
  • 2 Bauters C, Amouyel P. Association between the ACE genotype and coronary artery disease. Insights from studies on restenosis, vasomotion and thrombosis. Eur Heart J 1998; 19: 24-9.
    PubMedSuche in Google Scholar
  • 3 Van Leeuwen R, Kol A, Andreotti F, Kluft C, Maseri A, Sperti G. Angiotensin II increases plasminogen activator inhibitor type 1 and tissue-type plasminogen activator messenger RNA in cultured rat aortic smooth muscle cells. Circulation 1994; 90: 362-8.
    CrossrefPubMedSuche in Google Scholar
  • 4 Vaughan DE. The renin-angiotensin system and fibrinolysis. Am J Cardiol 1997; 79: 12-6.
    PubMedSuche in Google Scholar
  • 5 Kim DK, Kim JW, Kim S, Gwon HC, Ryu JC, Huh JEH, Choo JA, Choi Y, Rhee CH, Lee WR. Polymorphism of angiotensin converting enzyme gene is associated with circulating levels of plasminogen activator inhibitor-1. Arterioscler Thromb Vasc Biol 1997; 17: 3242-7.
    CrossrefPubMedSuche in Google Scholar
  • 6 Ridker P, Gaboury C, Conlin P, Seely E, Williams G, Vaughan D. Stimulation of plasminogen activator inhibitor in vivo by infusion of angiotensin II. Circulation 1993; 87: 1969-73.
    CrossrefPubMedSuche in Google Scholar
  • 7 Jan AHDanser, Schalekamp M, Bax W, Maassen van den ABrink, Saxena P, Riegger G, Schunkert H. Angiotensin-converting enzyme in the Human Heart: effect of the deletion/insertion polymorphism. Circulation 1995; 92: 1387-8.
    CrossrefPubMedSuche in Google Scholar
  • 8 Tiret L, Rigat B, Visvikis S, Breda C, Corvol P, Cambien F, Soubrier F. Evidence from combined segregation and linkage analysis, that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE. Am J Hum Genet 1992; 51: 197-205.
    PubMedSuche in Google Scholar
  • 9 Costerousse O, Allegrini J, Lopez M, Alhenc-Gelas F. Angiotensin I-converting enzyme in human peripheral mononuclear cells: main expression in T lymphocytes under the influence of a genetic polymorphism. Biochem J 1993; 290: 33-40.
    CrossrefPubMedSuche in Google Scholar
  • 10 Cambien F, Poirier O, Lecerf L, Evans A, Cambous JP, Arveiler D, Luc G, Bard JM, 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: 641-4.
    CrossrefPubMedSuche in Google Scholar
  • 11 Lindpaintner K, Pfeffer MA, Kreutz R, Stampfer MJ, Grodstein F, LaMotte F, Buring J, Hennekens CH. A prospective evaluation of an angiotensinconverting-enzyme gene polymorphism and the risk of ischemic heart disease. N Engl J Med 1995; 332: 706-11.
    CrossrefPubMedSuche in Google Scholar
  • 12 Cambien F, Costerousse O, Tiret L, Poirier O, Lecerf L, Gonzales MF, Evans A, Arveiler D, Cambou JP, Luc G, Rakotovao R, Ducimetière P, Soubrier F, Alhenc-Gelas F. Plasma level and gene polymorphism of angiotensin-converting enzyme in relation to myocardial infarction. Circulation 1994; 90: 669-76.
    CrossrefPubMedSuche in Google Scholar
  • 13 Mattu RK, Needham EW, Galton DJ, Frangos E, Clark AJ, Caulfield M. A DNA variant at the angiotensin-converting enzyme gene locus associates with coronary artery disease in the Caerphilly Heart Study. Circulation 1995; 91: 270-4.
    CrossrefPubMedSuche in Google Scholar
  • 14 Leatham E, Barley J, Redwood S, Hussein W, Carter N, Jeffery S, Bath PM, Camm A. Angiotensin-1 converting enzyme (ACE) polymorphism in patients presenting with myocardial infarction or unstable angina. J Hum Hypertens 1994; 08: 635-8.
    PubMedSuche in Google Scholar
  • 15 Nakai K, Itoh C, Miura Y, Hotta K, Musha T, Itoh T, Miyakawa T, Iwasaki R, Hiramori K. Deletion polymorphism of the angiotensin I-converting enzyme gene is associated with serum ACE concentration and increased risk for CAD in the Japanese. Circulation 1994; 90: 2199-202.
    CrossrefPubMedSuche in Google Scholar
  • 16 Park HY, Kwon HM, Jang Y, Shim WH, Cho SY, Kim HS. The angiotensin converting enzyme genetic polymorphism in acute coronary syndrome-ACE polymorphism as a risk factor of acute coronary syndrome. J Kor Med Sci 1997; 12: 391-7.
    CrossrefPubMedSuche in Google Scholar
  • 17 Samani NJ, 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: 708-12.
    CrossrefPubMedSuche in Google Scholar
  • 18 Berge KE, Bakken A, Bohn M, Erickssen J, Berg K. A DNA polymorphism at the angiotensin II type 1 receptor (AT1R) locus and myocardial infarction. Clinic Genet 1997; 52: 71-6.
    PubMedSuche in Google Scholar
  • 19 Nakauchi Y, Suehiro T, Yamamoto M, Yasuoka N, Arii K, Kumon Y, Hamashige N, Hashimoto K. Significance of angiotensin I-converting enzyme and angiotensin II type 1 receptor gene polymorphisms as risk factors for coronary heart disease. Atherosclerosis 1996; 125: 161-9.
    CrossrefPubMedSuche in Google Scholar
  • 20 Tiret L, Bonnardeaux A, Poirier O, Ricard S, Marques-Vidal P, Evans A, Arveiler D, Luc G, Kee F, Ducimetiere P, Soubrier F, Cambien F. Synergistic effects of angiotensin-converting enzyme and angiotensin-II type 1 receptor gene polymorphisms on risk of myocardial infarction. Lancet 1994; 344: 910-3.
    CrossrefPubMedSuche in Google Scholar
  • 21 Carmeliet P, Stassen JM, Schoojans I, Ream B, Van Der Oord JJ, De Mol M, Mulligan RCM, Collen D. Plasminogen activator inhibitor-I genedeficient mice, II: effects on hemostasis, thrombosis and thrombolysis. J Clin Invest 1993; 92: 2756-60.
    CrossrefPubMedSuche in Google Scholar
  • 22 Hamsten A, Walldius G, De Faire U, Dahlen G, Szamosi A, Landou C, Blombäck M, Wiman B. Plasminogen activator inhibitor in plasma: risk factor for recurrent myocardial infarction. Lancet 1987; 02: 3-9.
    PubMedSuche in Google Scholar
  • 23 Juhan-Vague I, Pyke SD, Alessi MC, Jespersen J, Haverkate F, Thompson SG. Fibrinolytic factors and the risk of myocardial infarction or sudden death in patients with angina pectoris. ECAT Study Group. European Concerted Action on Thrombosis and Disabilities. Circulation 1996; 94: 2057-63.
    PubMedSuche in Google Scholar
  • 24 Eriksson P, Kallin B, Van Hooft FM, Bavenholm 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; 92: 1851-5.
    CrossrefPubMedSuche in Google Scholar
  • 25 Ossei-Gerning N, Mansfield MW, Stickland MH, Wilson IJ, 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 Vasc Biol 1997; 17: 33-7.
    CrossrefPubMedSuche in Google Scholar
  • 26 Juhan-Vague I, Thompson SG, Jespersen J. Involvement of the hemostatic system in the insulin resistance syndrome. A study of 1500 patients with angina pectoris. The ECAT Angina Pectoris Study Group. Arterioscler Thromb 1993; 13: 1865-73.
    PubMedSuche in Google Scholar
  • 27 Gray RP, Panahloo A, Mohamed-Ali V, Patterson DL, Yudkin JS. Proinsulin-like molecules and plasminogen activator inhibitor type 1 (PAI-1) activity in diabetic and non-diabetic subjects with and without myocardial infarction. Atherosclerosis 1997; 130: 171-8.
    CrossrefPubMedSuche in Google Scholar
  • 28 Henry M, Tregouet DA, Alessi MC, Aillaud MF, Visvikis S, Siest G, Tiret L, Juhan-Vague I. Metabolic determinants are much more important than genetic polymorphisms in determining the PAI-1 activity and antigen plasma concentrations: A family study with part of the Stanislas cohort. Arterioscler Thromb Vasc Biol 1998; 18: 84-91.
    CrossrefPubMedSuche in Google Scholar
  • 29 Juhan-Vague I, Alessi MC. PAI-1, obesity, insulin resistance and risk of cardiovascular events. Thromb Haemost 1997; 78: 656-60.
    Thieme ConnectPubMedSuche in Google Scholar
  • 30 Dawson S, Hamsten A, Wiman B, Henney A, Humphries S. Genetic variation at the plasminogen activator inhibitor-1 locus is associated with altered levels of plasma plasminogen activator inhibitor-1 activity. Arterioscler Thromb 1991; 11: 183-90.
    CrossrefPubMedSuche in Google Scholar
  • 31 Ye S, Green FR, Scarabin PY, Nicaud V, Bara L, Dawson SJ, Humphries SE, Evans A, Luc G, Cambou JP. 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 infarction in the ECTIM study. Etude Cas Temoins de l’Infarctus du Myocarde. Thromb Haemost 1995; 74: 837-41.
    PubMedSuche in Google Scholar
  • 32 Burzotta F, Di Castelnuovo A, Amore C, D’Orazio A, Di Bitondo R, Donati MB, Iacovello L. 4G/5G promoter PAI-1 gene polymorphism is associated with plasmatic PAI-1 activity in Italians: a model of gene-environment interaction. Thromb Haemost 1998; 79: 354-8.
    Thieme ConnectPubMedSuche in Google Scholar
  • 33 Burzotta F, Di Castelnuovo A, Amore C, D’Orazio A, Donati MB, Iacovello L. 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: 1924-5.
    PubMedSuche in Google Scholar
  • 34 Iacovello L, Zito F, Di Castelnuovo A, de Maat M, Kluft C, Donati MB. Contribution of factor VII, fibrinogen and fibrinolytic components to the risk of ischaemic cardiovascular disease: their genetic determinants. Fibrinol Proteol 1998; 12: 259-76.
    CrossrefPubMedSuche in Google Scholar
  • 35 Mikkola H, Syrjälä M, Rasi V, Vahtera E, Peltonen L, Palotie A. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 1994; 84: 517-25.
    PubMedSuche in Google Scholar
  • 36 Kohler H, Stickland M, Ossei-Gerning N, Carter A, Mikkola H, Grant P. Association of a common polymorphism in the factor XIII gene with myocardial infarction. Thromb Haemost 1998; 79: 8-13.
    Thieme ConnectPubMedSuche in Google Scholar
  • 37 Wartiovaara U, Perola M, Mikkola H, Tötterman K, Salvolainen V, Penttilä A, Grant PJ, Tikkanen MJ, Vartiainen E, Karhunen PJ, Peltonen L, Palotie A. Association of FXIII Val34Leu with decresed risk of myocardial infarction in Finnish males. Atherosclerosis 1999; 142: 295-30.
    CrossrefPubMedSuche in Google Scholar
  • 38 Miller SA, Dykes DD, Polesky HF. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 1988; 16: 1215.
    CrossrefPubMedSuche in Google Scholar
  • 39 Rigat B, Hubert C, Corvol P, Soubrier F. PCR detection of the insertion/ detection polymorphism of the human angiotensin-converting enzyme gene (DCP 1) (dipeptidyl carboxypeptidase 1). Nucl Acid Res 1992; 20: 1433.
    PubMedSuche in Google Scholar
  • 40 Bonnardeaux A, Davies E, Jeunemaitre X, Fery I, Charru A, Clauser E, Tiret L, Cambien F, Corvol P, Soubrier F. Angiotensin II type 1 receptor gene polymorphisms in human hypertension. Hypertension 1994; 24: 63-9.
    CrossrefPubMedSuche in Google Scholar
  • 41 Henry M, Morange PE, Canavy I, Alessi MC, Juhan-Vague I. Rapid detection of Factor XIII Val 34 Leu by Allele Specific PCR. Thromb Haemost 1999; 81: 463.
    Thieme ConnectPubMedSuche in Google Scholar
  • 42 Oike Y, Hata A, Ogata Y, Numata Y, Shido K, Kondo K. Angiotensin converting enzyme as a genetic risk factor for coronary artery spasm. Implication in the pathogenesis of myocardial infarction. J Clin Invest 1995; 96: 2975-9.
    PubMedSuche in Google Scholar
  • 43 Amant C, Hamon M, Bauters C, Richard F, Helbecque N, McFadden EP, Escudero X, Lablanche JM, Amouyel P, Bertrand ME. The angiotensin II type 1 receptor gene polymorphism is associated with coronary artery vasoconstriction. J Am Coll Cardiol 1997; 29: 486-90.
    CrossrefPubMedSuche in Google Scholar
  • 44 Van Geel PP, Voors AA, Oosterga M, Pinto YM, Buikema H, Kingma JH, Crijns HJGM, van Gilst WH. Angiotensin-II type 1 receptor polymorphism is associated with an increased vasoreactivity to angiotensin II in human arteries. J Am Coll Cardiol 1998; 31 (Suppl A) 26A.
    PubMedSuche in Google Scholar
  • 45 Poirier O, Georges JL, Ricard S, Arveiler D, Ruidavets JB, Luc G, Evans A, Cambien F, Tiret L. New polymorphisms of the angiotensin II type 1 receptor gene and their associations with myocardial infarction and blood pressure: the ECTIM study. Etude cas-témoin de l’infarctus du myocarde. J Hypertens 1998; 16: 1443-7.
    PubMedSuche in Google Scholar