Frequency of factor II G20210A, factor V Leiden, MTHFR C677T and PAI-15G/4G polymorphism in patients with venous thromboembolism: Croatian case-control study

Biochemia Medica

Volumn 20, Issue 2, 2010, Pages 229-235

  Alfirevic, Zrinka ^a   Simundic, Ana Maria ^a   Nikolac, Nora ^a   Sobocan, Nikola ^b   Alfirevic, Igor ^c   Stefanovic, Mario ^a   Vucicevic, Zeljko ^a   Topic, Elizabeta ^a  

^a SESTRE MILOSRDNICE UNIVERSITY HOSPITAL   (Croatia)

^b akovec County Hospital   (Croatia)

^c Special Hospital for Cardiovascular Surgery and Cardiology Magdalena   (Croatia)

Author keywords

Coagulation disorders; Factor II; FV Leiden; Methylenetetrahydrofolate reductase; Plasminogen activator Inhibitor 1; Polymorphism; Thrombophilia

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5; PLASMINOGEN ACTIVATOR INHIBITOR 1; PROTHROMBIN;

ADULT; ALLELE; ANALYTIC METHOD; ARTICLE; CONTROLLED STUDY; CROATIA; DEVICE; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PREVALENCE; VENOUS THROMBOEMBOLISM;

EID: 77953814681     PISSN: 13300962     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (37)

1. Silverstein M, Heit J, Mohr D, Petterson T, O'Fallon W, Melton L. Trends in the incidence of deep vein thrombosis and pulmonary embolism: a 25-year population-based, cohort study. Arch Intern Med 1998;158:585-593
2. Heit J, Petterson T, Farmer S, Bailey K, Melton L. Trends in incidence of deep vein thrombosis and pulmonary embolism: a 35-year population-based study. Blood 2006;108:430a.
3. Baker LW, Prajapat DK. Deep vein thrombosis in African and Indian patients. S Afr J Surg 1974;12:127-131
4. Kniffin WD, Baron JA, Barrett J, Birkmeyer JD, Anderson FA. The epidemiology of diagnosed pulmona ry embolism and deep venous thrombosis in the elderly. Arch Intern Med 1994;154:861-863
5. White R, Zhou H, Romano P. Incidence of idiopathic deep venous thrombosis and secondary thromboembolism among ethnic groups in California. Ann Int Med 1998;128:737-740
6. Hooper W, Holman R, Heit J, Cobb N. Venous thromboem bolism hospitalizations among American Indians and Alaska Natives. Thromb Res 2002;108:273-278
7. De Stefano V, Finazzi G, Mannucci PM. Inherited thrombophilia: pathogenesis, clinical syndromes, and management. Blood 1996; 87:3531-3544
8. Heit JA, Silverstein MD, Mohr DN, Tanya M, Petterson MS, O'Fallon WM, Melton LJ. Risk factors for deep vein thrombosis and pulmonary embolism a population-based case control study. Arch Intern Med 2000;160:809-815
9. Wheeler HB, Anderson FA Jr, Cardullo PA, Patwardhan NA, Jian-Ming L, Cutler BS. Suspected deep vein thrombosis. Management by impedance plethysmography. Arch Surg 1982;117:1206-1209
10. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995;346:1133-1134
11. Koster T, Roosendaal FR, de Ronde H, Briet E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993;342:1503-1506
12. Svensson PJ, Dahlback, B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330:517-522 (Pubitemid 24058953)
13. Factor V Leiden thrombophilia. Genetics Home Reference. 2007. Available at: http://ghr.nlm.nih.gov/condition=factorvleidenthrombophilia. Accessed February 13, 2008.
14. Poort SR, Roosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3'-untranslated region of the prothrom bingene is as sociatedwith elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698-3703
15. 20210 gene variant. Ann Intern Med 1998;15;129:89-93.
16. Roosendaal FR, Doggen C, Zivelin A, Arruda V, Aiach M. Geographic distribution of the 20210G to A prothrombin variant. Thromb Haemost 1998;79:706-708
17. van der Meer FJ, Koster T, Vandenbroucke JP, Briët E, Roosendaal FR. The Leiden Thrombophilia Study (LETS). Thromb Hae most 1997;78:631-635
18. Martinelli I, Bucciarell P, Margaglione M, De Stefano V, Castaman G, Mannucci P, Mannuccio I. The risk of venou thromboembolism in family members with mutations in the genes of factor V or prothrombin or both. Br J Hae matol 2000;111:1223-1229
19. Cattaneo M. Hyperhomocysteinemia, atherosclerosis and thrombosis. Thromb Haemost 1999;81:165-176
20. Froost P, Blom HJ, Milos R, Gazette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-113
21. Pepe G, Camacho Vanegas O, Giusti B, Brunelli T, Marcucci R, Attanasio M, et al. Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10-Methylenetetra-hydrofolate reductase. Am J Hum Genet 1998;63:917-920
22. den Heijer M, Lewington S, Clarke R. Homocysteine, MTHFR and risk of venous thrombosis: a meta-analysis of published pidemiological studies. J Thromb Hae most 2005;3: 292-299
23. Eriksson P, Kallin B, Van't Hoffi FM, Båvenholm P, Hamsten A. Al lele-specific increase in basal transcription of the plasminogen activator in hibitor-1 geneis associated with myocardial in farction. Proc Natl Acad Sci USA 1995;92:1851-1855
24. Tsantes AE, Nikolopoulos GK, Bagos PG, Rapti E, Mantzios G, Kapsimali V, Travlou A. Association between the plasminogen activator inhibito r-1 4G/5G polymorphism and venous thrombosis. A meta analysis.Thromb Haemost 2007; 97:907-913
25. Coen D, Zadro R, HonovićI, Banfić Lj, Stavljenić Rukavina A. Prevalence and association of the factor V Leiden and Prothrombin G20210A in healthy subjects and patients with venous thromboembolism. Croat Med J 2001;42:488-492
26. Lovričević I, Franjić BD, Tomičić M, Vrkić N, de Syo D, Hudorović N, et al. 5,10- Methylenetetrahydrofolate reductase (MTHFR) 677 C→T genetic polymorphism in 228 Croatian volunteers. Coll Antro pol 2004;28:647-654
27. The British Thoracic Society Standardsof Care Committee, Pulmonary Embolism Guideline Development Group Thorax: Guidelines for the Management of Suspected Acute Pulmonary Embolism, 2003:58:470-484
28. Bell WR, Simon TI. Current status of pulmonary thromboembolic disease. Pathophysiology, diagnosis, prevention, and treatment. Am Heart J 1982;103:239-262
29. Zöller B, García de Frutos P, Hillarp A, Dahlbäck B. Thrombophilia as a multigenic disease. Haematologica 1999;84: 59-70.
30. Bertina RM, Koeleman BPC, Koster T, Rosendaal TR, Dirven RJ, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-67
31. Rosendaal TR, Koster T, Vanderbroucke JP, Reitisma PH. High risk of the thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995;85: 1504-1508
32. Lucotte G, Mercier G. Population genetics of factor V Leiden in Europe. Blood Cells Mol Dis 2001;27:362-367
33. Ruiz-Argüelles GJ, Garcés-Eisele J, Reyes-Núñez V, Francisco J, Ramírez-Cisneros FJ. Primary thrombop hilia in Mexico. II. Factor V G1691A (Leiden), prothrombin G20210A, and methylene tetra hydro folate reductase C677T polymorphism in thrombophilic Mexican mestizos. Am J Hemat 2000;66:28-31.
34. Stegnar M, Uhrin P, Peternel P, Mavri A, Salobir-Pajnic B, Stare J, Binder BR. The 4G/5G sequen ce polymorphism in the promoter of plasminogen activator in hibito r-1 (PAI-1) gene: relationship to plas ma PAI-1 level in venous thromboembolism. Thromb Haemost 1998;79:975-979
35. Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Miletich JP. 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.
36. Begonja A, Šimundic AM, Štefanovic M, Topic E. PCR-SSCP genotyping of the plasminogen activator in hibitor-1 4G/5G polymorphism. Bio chem Med 2002;1-2:1-5.
37. Naess IA, Christiansen SC, Romunds PR, Cannegieter SC, Blom HJ, Rosendaal FR, Hammerstrem J. Pros pective study of homoysteine and MTHFR 677TT genotype and risk for venous thrombosis in a general population -resul ts from the HUNT 2 study. Br J Haematol 2008;141:529-535