Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population

International Angiology

Volumn 21, Issue 4, 2002, Pages 322-329

  Xenophontos, S L ^a   Hadjivassiliou, M ^a   Ayrton, N ^a   Karagrigoriou, A ^b   Pantzaris, M ^a   Nicolaides, A N ^a   Cariolou, M A ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b UNIVERSITY OF CYPRUS   (Cyprus)

Author keywords

Factor V.; Man screening; Thrombophilia; Thrombosis, prevention and control; Venous

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5; DNA; FIBRINOGEN; FIBRINOGEN B BETA CHAIN; PLASMINOGEN ACTIVATOR INHIBITOR 1; PROTHROMBIN; THROMBOCYTE GLYCOPROTEIN RECEPTOR IIIA; THROMBOCYTE RECEPTOR; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; CASE CONTROL STUDY; CYPRUS; DEEP VEIN THROMBOSIS; EUROPE; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MALE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PREVALENCE; PROSPECTIVE STUDY; SCREENING TEST; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOPHILIA; THROMBOSIS;

ADULT; CYPRUS; FACTOR V; FEMALE; FIBRINOGEN; GENE FREQUENCY; HUMANS; INTEGRIN BETA3; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PLASMINOGEN ACTIVATOR INHIBITOR 1; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTHROMBIN; SERINE PROTEINASE INHIBITORS; THROMBOSIS;

EID: 0036942190     PISSN: 03929590     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (53)

1. Constantinou Deltas C. The molecular profile of cystic fibrosis in cyprus and the implementation of a regional carrier detection program. Newsletter (ECCACF) European Community Conserted Action for CF 1998;3:2-5.
2. Xenophontos SL, Pierides A, Demetriou K, Avraamides P, Manoli P, Ayrton N et al. Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E and C660X) in Cyprus. Hum Mutat 2000;15:380.
3. Angelopoulou K, Nicolaides A, Constantinou Deltas C. Prevalence of genetic mutation that predispose to thrombophilia in a Greek Cypriot population. Clin Appl Thromb Hemost 2000;6:104-7.
4. Bertina RM, Koeleman RPC, Koster T. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-7.
5. 506 to Gln mutation in factor V as a pathogenic risk factor for venous thrombosis. Thromb Haemost 1995;74:139-48.
6. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995;85:1504-8.
7. Simioni P, Sanson BJ, Prandoni P, Tormene D, Friederich PW, Girolami B et al. Incidence of venous thromboembolism in families with inherited thrombophilia. Thromb Haemost 1999;81:198-202.
8. Bloomenthal D, Delisle MF, Tessier F, Tsang P. Obstetric implications of the factor V Leiden mutation: a review. Am J Perinatol 2002;19:37-47.
9. Rosendaal FR, Vessey M, Rumley A, Daly E, Woodward M, Helmerhorst FM et al. Hormonal replacement therapy, prothrombotic mutations and the risk of venous thrombosis. Br J Haematol 2002;116:851-4.
10. Tormene D, Simioni P, Prandoni P, Lini S, Innella B, Sabbion P et al. The risk of fetal loss in family members of probands with factor V Leiden mutation. Thromb Haemost 1999;82:1237-9.
11. Simioni P, Tormene D, Prandoni P, Zerbinati P, Gavasso S, Cefalo P et al. Incidence of venous thromboembolism in asymptomatic family members who are carriers of factor V Leiden: a prospective cohort study. Blood 2002;99:1938-42.
12. Kapur RK, Mills LA, Spitzer SG, Hultin MB. A prothrombin gene mutation is significantly associated with venous thrombosis. Arterioscler Thromb Vasc Biol 1997;17:2875-9.
13. Mansilha A, Araujo F, Sampaio S, Cunha Ribiero LM, Braga A. The PORtromb Project: prothrombin G20210A mutation and venous thromboembolism in young people. Cardiovasc Surg 2002;10:45-8.
14. Poort SR, Rosendaal FR, Reitsma PH, Pertina RM. A common genetic variation in the 3′-untranslated region of prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698-703.
15. Rosendaal FR, Doggen CJ, Zivelin A, Arruda VR, Aiach M, Siscovicl Hillarp A et al. Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost 1998;79:706-8.
16. Martinelli I, Taioli E, Bucciarelli P, Akhavan S, Mannuci PM. Interaction between the G20210A mutation of the prothrombin gene and oral contraceptive use in deep vein thrombosis. Arterioscler Thromb Vasc Biol 1999;19:700-3.
17. Gallagher PM, Meleady R, Shields DC, Tan KS, McMaster D, Rozen R et al. Homocysteine and risk of premature coronary heart disease. Evidence for a common gene mutation. Circulation 1996;94:2154-8.
18. Copp AJ. Prevention of neural tube defects: vitamins, enzymes and genes. Curr Opin Neurol 1988;11:97-102.
19. den Heijer M, Brouwer IA, Bos GMJ, Blom HJ, van der Put NMJ, Spaans AP et al. Vitamin supplementation reduces blood homocysteine levels. Arterioscler Thromb Vasc Biol 1998;18:356-61.
20. Selhub J, Jacques PF, Bostom AG, D'Agostino RB, Wilson PW, O'Leary DH et al. Association between plasma homocysteine concentrations and extracranial carotid-artery stenosis. N Engl J Med 1995;332:286-91.
21. De Stefano V, Finazzi G, Mannuccio Mannucci P. Inherited thrombophilia: pathogenesis, clinical syndromes and management. Blood 1996;87:3530-44.
22. Den Heijer M, Brouwer IA, Bos GMJ, Blom HJ, van der Put NMJ, Spaans AP et al. Vitamin supplementation reduces blood homocysteine levels. Arterioscler Thromb Vasc Biol 1998;18:356-61.
23. Cattaneo M, Chantarangkul V, Taioli E, Santos JH, Tagliabue L. The G20210A mutation of the prothrombin gene in patients with previous first episodes of deep-vein thrombosis: prevalence and association with factor V G1691A, methylenetetrahydrofolate reductase C677T and plasma prothrombin levels. Thromb Res 1999;93:1-8.
24. De Stefano V, Martinelli I, Mannuccio Mannucci P, Paciaroni K, Chiusolo P, Casorelli I et al. The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med 1999;341:801-6.
25. Seligsohn U, Zivelin A. Thrombophilia as a multigenic disorder. Thromb Haemost 1997;78:297-301.
26. Di Minno GD, Grandone E, Margaglione M. Clinical relevance of polymorphic markers of arterial thrombosis. Thromb Heamost 1997;78:462-6.
27. Fuster V, Fallon JT, Badimo JJ, Nemerson Y. The unstable atherosclerotic plaque: clinical significance and therapeutic intervention. Thromb Haemost 1997;78:247-55.
28. Elbaz A, Amarenco P. Genetic susceptibility and ischaemic stroke. Curr Opin Neurol 1999;12:47-55.
29. Margaglione M, Cappucci G, d'Addedda M, Colaizzo D, Giulianni N, Becchione G et al. PAI-1 Plasma levels in a general population without clinical evidence of atherosclerosis. Arterioscler Thromb Vasc Biol 1998;18:562-7.
30. Margaglione M, Cappucci G, Colaizzo D, Giulianni N, Becchione G, Pennelli O et al. The PAI-1 Gene Locus 4G/5G polymorphism is associated with a family history of coronary artery disease. Arterioscler Thromb Vasc Biol 1998;18:152-6.
31. Bang CO, Park HK, Ahn MY, Shin HK, Hwang KY, Hong SY. 4G/5g polymorphism of the plasminogen activator inhibitor-1 and insertion/deletion polymorphism of the tissue-type plasminogen activator gene in atherothrombotic stroke. Cerebrovasc Dis 2001;11:294-9.
32. Endler G, Lalouschek W, Exner M, Mitterbaauer G, Haring D, Mannhalter C. The 4G/4G genotype at nucleotide position -675 in the promoter region of the plasminogen activator inhibitor 1 (PAI-1) gene is less frequent in young patients with minor stroke than in controls. Br J Haematol 2000;110:469-71.
33. Roest M, van der Schouw YT, Banga JD, Tempelman MJ, de Groot PG, Sixma JJ et al. Plasminogen activator inhibitor 4G polymorphism is associated with decreased risk of cerebrovascular mortality in older women. Circulation 2000;101:67-70.
34. +1689 (AvaII), and BclI (β-Fibrinogen) and Taq1 (α-Fibrinogen), and their detection by PCR. Hum Mutat 1994;3:79-81.
35. Zito F, Di Castelnuovo A, Amore C, D'Orazio A, Donati MB, Iacovielle L. BclI polymorphism in the fibrinogen β-chain gene is associated with the risk of familial myocardial infarction by increasing plasma fibrinogen levels. A case-control study in a sample of GISSI-2 patients. Thromb Vasc Biol 1997;17:3489-94.
36. Kessler C, Spitzer C, Stauske D, Mende S, Stadlmuller J, Reinhard W et al. The apolipoprotein E and β-fibrinogen G/A-455 gene polymorphisms; are associated with ischaemic stroke involving large-vessel disease. Arterioscler Thromb Vasc Biol 1997;17:2880-4.
37. Nishium S, Kario K, Yakushijin K, Maeda M, Murai R, Matsu OT et al. Genetic variation in the promoter region of the β-fibrinogen gene is associated with ischemic stroke in a Japanese population. Blood Coagul Fibrinol 1998;9:373-9.
38. Thomas AE, Green FR, Humphries SE. Association of genetic variation at the β-fibrinogen gene locus and plasma fibrinogen levels: interaction between allele frequency of the G/A -455 polymorphism, age and smoking. Clin Genet 1996;50:184-90.
39. A polymorphism of glycoprotein IIb/IIIa and the fibrinogen Bβ 448 polymorphism with myocardial infarction and extent of coronary artery disease. Circulation 1997;96:1424-31.
40. A), Ko, Bak and Br (HPA-1, 2, 3, 5). Br J Haematol 1995;89:169-76.
41. Mikkelsson J, Perola M, Laippala P, Savolainen V, Pajarinen J, Lalu K et al. Glycoprotein IIIa PI(A) 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 Vasc Biol 1999;19:2573-8.
42. Horisawa S, Kaneko M, Sakurama T. SM-20302, a nonpeptide GPIIb/IIIa receptor antagonist, exhibits a wide therapeutic window in a newly developed hemorrhage model in mice. Thromb Haemost 1999;82:1743-8.
43. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
44. Margaglione M, Grandone E, Cappucci G, Colaizzo D, Giuliani N, Vecchione G et al. An alternative method for PAI-1 promoter polymorphism (4G/5G) typing. Thromb Haemost 1997;77:600-9.
45. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genetics 1995;10:111-3.
46. Ferraresi P, Marchetti G, Legnani C, Cavallari E, Castoldi E, Mascoli F et al. The heterozygous 20210 G/A prothrombin genotype is associated with early venous thrombosis in inherited thrombophilias and is not increased in frequency in artery disease. Arterioscler Thromb Vasc Biol 1997;17:2418-22.
47. Castoldi E, Lunghi B, Mingozzi F, Ioannou P, Marchetti G, Bernardi F. New coagulation factor V gene polymorphisms define a single and infrequent haplotype underlying the factor V Leiden mutation in Mediterranean population and Indians. Thromb Haemost 1997;78:1037-44.
48. Antoniadi T, Hatzis T, Kroupis C, Economou-Peterson E, Peterson MB. Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in a Greek population of blood donors. Am J Hematol 1999;61:265-7.
49. Gong R, Liu Z, Chen Z, Li L. Genetic variations in plasminogen activator inhibitor-1 gene and β-fibrinogen gene associated with glomerular microthrombosis in lupus nephritis and the gene dosage effect. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2002;19:1-5.
50. Hessner MJ, Luhm RA, Pearson SL, Endean DJ, Friedman KD, Montgomery RR. Prevalence of prothrombin G20210A, factor V G1691A (Leiden), and methylenetetrahydrofolate reductase MTHFR C677T in 7 different populations determined by multiplex allele-specific PCR. Thromb Haemost 1999;81:733-8.
51. Zoller B, Garcia de Frutos P, Hillarp A, Dahlback B. Thrombophilia as a multigenic disease. Haematologica 1999;84:59-70.
52. Thomas AE, Green FR, Kelleher CH, Wilkes HC, Brennan PJ, Meade TW et al. Variation in the promoter region of the β-fibrinogen gene is associated with plasma fibrinogen levels in smokers and non-smokers. Thromb Haemost 1991;65:487-90.
53. Ardissino D, Mannucci PM, Merlini PA, Duca F, Fetiveau R, Tagliabue L et al. Prothrombotic genetic risk factors in young survivors of myocardial infarction. Blood 1999;94:46-51.