冠心病与血栓形成相关基因的多态性
张晟瑜;张抒扬;
摘要(Abstract):
<正>冠状动脉粥样硬化性心脏病(冠心病)是一种血栓性疾病,在冠状动脉粥样硬化的基础上,斑块破裂促使血栓形成,即会发生急性心肌梗死,导致心室重塑、心力衰竭,剥夺了无数人的生命。冠心病使患者的生活质量和寿命受到了严重影响。据估计有超过400个基因可能调控冠心病的发生和发展过程,如脂质代谢、炎症、内皮功能及凝血纤溶系统等[1],但多数基因对表现型的影响可能很小。一些研究报道与凝血过程相关的蛋白(如纤维蛋白原、
关键词(KeyWords):
冠状动脉疾病;基因多态性;凝血系统;纤溶系统;血小板膜糖蛋白
基金项目(Foundation):
作者(Authors):
张晟瑜;张抒扬;
参考文献(References):
- [1]Funke H,Assmann G.Strategies for the assessment of ge-netic coronary artery disease risk[J].Curr Opin Lipidol,1999,10:285-291.
- [2]Scarabin PY,Arveiler D,Amouyel P,etal.Plasma fibrino-gen explains much of the difference in risk of coronary heart disease between France and Northern Ireland.The PRIME study[J].Atherosclerosis,2003,166:103-109.
- [3]Behague I,Poirier O,Nicaud V,et al.βfibrinogen gene polymorphisms are associated with plasma fibrinogen and coronary artery disease in patients with myocardial infarction[J].Circulation,1996,93:440-449.
- [4]Carter AM,Mansfield MW,Stickland MH,et al.β-fibrino-gen gene-455G/Apolymorphismand fibrinogen levels:risk factors for coronary artery disease in subjects with NIDDM[J].Diabetes Care,1996,9:1265-1268.
- [5]de Maat MPM,Kastelein JJP,Jukema JW,et al.-455G/A polymorphism of the b-fibrinogen gene is associated with the progression of coronary atherosclerosis in symptomatic men:proposed role for an acute phase reaction pattern of fibrino-gen[J].Arterioscler Thromb Vasc Biol,1998,18:265-271.
- [6]Zito F,Di Castelnuovo A,Amore C,et al.Bcl I polymor-phism in the fibrinogen b-chain gene is associated with the risk of familial myocardial infarction by increasing plasma fi-brinogen levels:a case-control study in a sample of GISSI-2patients[J].Arterioscler Thromb Vasc Biol,1997,17:3489-3494.
- [7]Tybjaerg-Hansen A,Agerholm-Larsen B,Humphries SE,et al.A common mutation(G-455-A)in the b-fibrinogen pro-moter is an independent predictor of plasma fibrinogen,but not of ischemic heart disease:a study of9,127individuals based on the Copenhagen City Heart Study[J].J Clin In-vest,1997,99:3034-3039.
- [8]Wang XL,Wang J,McCredie RM,et al.Polymorphisms of factor V,factor VII,and fibrinogen genes:relevance to se-verity of coronary artery disease[J].Arterioscler Thromb Vasc Biol,1997,17:246-251.
- [9]Boekholdt SM,Bijsterveld NR,Moons AH,et al.Genetic variation in coagulation and fibrinolytic proteins and their re-lation with acute myocardial infarction:a systematic review[J].Circulation,2001,104:3063-3068.
- [10]Lane A,Green F,Scarabin PY,et al.Factor VII Arg/Gln353polymorphism determines factor VII coagulant activi-ty in patients with myocardial infarction(MI)and control subjects in Belfast and in France but is not a strong indica-tion of MI risk in the ECTIM study[J].Atherosclerosis,1996,119:119-127.
- [11]Doggen CJM,Cats VM,Bertina RM,et al.A genetic pro-pensity to high factor VII is not associated with the risk of myocardial infarction in men[J].Thromb Haemost,1998,80:281-285.
- [12]Domenico G,Carla Russo,Paolo F,et al.Polymorphisms in the FactorVII gene and the risk of myocardial infarction in patients with coronary artery disease[J].N Engl J Med,2000,343:774-780.
- [13]Iacoviello L,Di Castelnuovo A,de Knijff P,etal.Polymor-phisms in the coagulation factor VII gene and the risk of my-ocardial infarction[J].N Engl J Med,1998,338:79-85.
- [14]Rosendaal FR,Siscovick DS,Schwartz SM,et al.Factor V Leiden(resistance to activated protein C)increases the risk of myocardial infarction in young women[J].Blood,1997,89:2817-2821.
- [15]Salomaa V,Matei C,Aleksic N,et al.Soluble thrombo-modulin as a predictor of incident coronary heart disease and symptomless carotid artery atherosclerosis in the Atheroscle-rosis Risk in Communities(ARIC)Study:a case-cohort study[J].Lancet,1999,353:1729-1734.
- [16]Norland L,Holm J,Zoller B,et al.A common thrombo-modulin amino acid dimorphismis associated with myocardial infarction[J].Thromb Haemost,1997,77:248-251.
- [17]Thompson SG,KienastJ,Pyke SDN,etal.Hemostatic fac-tors and the risk of myocardial infarction or sudden death in patients with angina pectoris[J].N Engl J Med,1995,332:635-641.
- [18]Ludwig M,Wihn KD,Scheuning WD,et al.Alleleic di-morphism in the human tissue-type plasminogen activator(TPA)gene as a result of an Alu insertion/deletion event[J].Hum Genet,1992,88:388-392.
- [19]Ladenvall P,Johansson L,Jansson JH,et al.Tissue-type plasminogen activator-7,351C/T enhancer polymorphism is associated with a first myocardial infarction[J].Thromb Haemost,2002,87:105-109.
- [20]Sobel BE,Woodcock-Mitchell J,Schneider DJ,et al.In-creased plasminogen activator inhibitor type1in coronary ar-tery atherectomy specimens from type2diabetic compared with non-diabetic patients:a potential factor predisposing to thrombosis and its persistence[J].Circulation,1998,97:2213-2221.
- [21]Margaglione M,Cappucci G,Colaizzo D,et al.The PAI-1gene locus4G/5G polymorphism is associated with a family history of coronary artery disease[J].Arterioscler Thromb Vasc Biol,1998,18:152-156.
- [22]Weiss EJ,Bray PF,Tayback M,etal.Apolymorphismof a platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis[J].NEngl J Med,1996,334:1090-1094.
- [23]Herrmann SM,Poirier O,Marques-Vidal P,et al.The Leu33/Pro polymorphism(PlA1/PlA2)of the glycoprotein IIIa(GPIIIa)receptor is not related to myocardial infarction in the ECTIMStudy[J].Thomb Haemost,1997,77:1179-1181.
- [24]Gonzalez-Conejero R,Lozano ML,Rivera J,et al.Poly-morphisms of platelet membrane glycoprotein Iba associated with arterial thrombotic disease[J].Blood,1998,92:2771-2776.
- [25]The Wellcome Trust Case Control Consortium.Genome-wide association study of14,000cases of seven common disea-ses and3,000shared controls[J].Nature,2007,447:661-677.
- [26]Hardy J,Singleton A,Genomewide association studies and human disease[J].N Engl J Med,2009,360:1759-1768.