Genetic mutations in Turkish population with pulmonary embolism and deep venous thrombosis

Clinical and Applied Thrombosis/Hemostasis

Volumn 17, Issue 6, 2011, Pages

  Kupeli, Elif ^a   Verdi, Hasibe ^a   Simsek, Abdullah ^a   Atac, Fatma Belgin ^a   Eyuboglu, Fusun Oner ^a  

^a BASKENT UNIVERSITY   (Turkey)

Author keywords

deep venous thrombosis; gene polymorphisms; pulmonary embolism

Indexed keywords

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

ADULT; ARTICLE; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; LUNG EMBOLISM; MAJOR CLINICAL STUDY; MALE; POPULATION GENETICS; PRIORITY JOURNAL; TURKEY (REPUBLIC);

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; FACTOR V; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; MUTATION; PLASMINOGEN ACTIVATOR INHIBITOR 1; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; PROTHROMBIN; PULMONARY EMBOLISM; TURKEY; VENOUS THROMBOSIS; YOUNG ADULT;

EID: 84857198150     PISSN: 10760296     EISSN: 19382723     Source Type: Journal    
DOI: 10.1177/1076029610385224     Document Type: Article

References (59)

1. Naess IA, Christiansen SC, Romundstad P, Cannegieter SC, Rosendaal FR, Hammerstrøm J.. Incidence and mortality of venous thrombosis: a population-based study. J Thromb Haemost. 2007 ; 5 (4). 692-699 (Pubitemid 46563566)
2. Stein PD, Huang H, Afzal A, Noor HA.. Incidence of acute pulmonary embolism in a general hospital. Chest. 1999 ; 116 (4). 909-913
3. Ivanov P, Komsa-Penkova R, Kovacheva K, et al. Impact of thrombophilic genetic factors on pulmonary embolism: early onset and recurrent incidences. Lung. 2008 ; 186 (1). 27-36
4. Adcock DM, Fink L, Marlar RA.. A laboratory approach to the evaluation of hereditary hypercoagulability. Am J Clin Pathol. 1997 ; 108 (4). 434-449 (Pubitemid 27411296)
5. Dickson BC.. Venous thrombosis: on the history of Virchow's triad. Univ Toronto Med J. 2004 ; 81: 166-171
6. Furie B, Furie BC.. Mechanisms of thrombus formation. N Engl J Med. 2008 ; 359 (9). 938-949
7. Margaglione M, Brancaccio V, Giuliani N, et al. Increased risk for venous thrombosis in carriers of the prothrombin G - >A20210 gene variant. Ann Intern Med. 1998 ; 129 (2). 89-93 (Pubitemid 28337249)
8. Pabinger I, Schneider B.. Thrombotic risk in hereditary antithrombin III, protein C, or protein S deficiency. A cooperative, retrospective study. Arterioscler Thromb Vasc Biol. 1996 ; 16 (6). 742-748 (Pubitemid 26179362)
9. Castoldi E, Hackeng TM.. Regulation of coagulation by protein S. Curr Opin Hematol. 2008 ; 15 (5). 529-536
10. Lijfering WM, Brouwer JL, Veeger NJ, et al. Selective testing for thrombophilia in patients with first venous thrombosis: results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives. Blood. 2009 ; 113 (21). 5314-5322
11. Dutta TK, Venugopal V.. Venous thromboembolism: the intricacies. J Postgrad Med. 2009 ; 55 (1). 55-64
12. Akar N, Akar E, Dalgan G, Sözüöz A, Ömürlü K, Cin Ş.. Frequency of factor V (1691 G-A) mutation in Turkish population. Thromb Haemost. 1997 ; 78 (6). 1527-1528
13. Akar N, Akar E, Akçay R, Avcu F, Yalcin A, Cin S.. Effect of methylenetetrahydrofolate reductase 677 C-T, 1298 A-C, and 1317 T-C on factor V 1691 mutation in Turkish deep vein thrombosis patients. Thromb Res. 2000 ; 97 (3). 163-167 (Pubitemid 30055281)
14. Akar N, Akar E, Yilmaz E.. Factor V (His 1299 Arg) in Turkish patients with venous thromboembolism. Am J Hematol. 2000 ; 63 (2). 102-103 (Pubitemid 30068920)
15. Akar N, Yilmaz E, Akar E, Avcu F, Yalçan A, Cin Ş.. Effect of plasminogen activator anhibitor-1 4G-5G polymorphism in Turkish deep vein thrombotic patients with and without FV1691G-A. Thromb Res. 2000 ; 97 (4). 227-230 (Pubitemid 30069711)
16. Miller SA, Dykes DD, Polesky HF.. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988 ; 16 (3). 1215
17. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM.. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996 ; 88 (10). 3698-3703 (Pubitemid 26383091)
18. Castaman G, Lunghi B, Missiaglia E, Bernardi F, Rodeghiero F.. Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V. Br J Haematol. 1997 ; 99 (2). 257-261 (Pubitemid 27497548)
19. Williamson D, Brown K, Luddington R, Baglin C, Baglin T.. Factor V Cambridge: a new mutation (Arg306 - >Thr) associated with resistance to activated protein C. Blood. 1998 ; 91 (4). 1140-1144 (Pubitemid 28086865)
20. De Stefano V, Zappacosta B, Persichilli S, et al. Prevalence of mild hyperhomocysteinaemia and association with thrombophilic genotypes (factor V Leiden and prothrombin G20210A) in Italian patients with venous thromboembolic disease. Br J Haematol. 1999 ; 106 (2). 564-568 (Pubitemid 29450689)
21. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995 ; 10 (1). 111-113
22. Margaglione M, Grandone E, Cappucci G, et al. An alternative method for PAI-1 promoter polymorphism (4G/5G) typing. Thromb Haemost. 1997 ; 77 (3). 605-606
23. Dahlbäck B, Carlsson M, Svensson PJ.. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci U S A. 1993 ; 90 (3). 1004-1008 (Pubitemid 23053939)
24. Press RD, Bauer KA, Kujovich JL, Heit JA.. Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders. Arch Pathol Lab Med. 2002 ; 126 (11). 1304-1318 (Pubitemid 36237281)
25. 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 seven different populations determined by multiplex allele-specific PCR. Thromb Haemost. 1999 ; 81 (5). 733-738 (Pubitemid 29216559)
26. Dzimiri N, Meyer B.. World distribution of factor V Leiden. Lancet. 1996 ; 347 (8999). 481-482
27. Pepe G, Rickards O, Vanegas OC, et al. Prevalence of factor V Leiden mutation in non-European populations. Thromb Haemost. 1997 ; 77 (2). 329-331 (Pubitemid 27084925)
28. Akar N, Akar E, Yilmaz E.. Coexistence of factor V 1691 G-A and factor V 4070 A-G mutation in Turkish thromboembolic patients. Am J Hematol. 2000 ; 65 (1). 87-89
29. Akar N, Akar E, Masarloǧlu M, Avcu F, Yalçan A, Cin Ş.. Search for genetic factors favoring thrombosis. Thromb Res. 1998 ; 92 (2). 79-82 (Pubitemid 28481386)
30. Gurgey A, Haznedaroǧlu IC, Egesel T, et al. Two common genetic thrombotic risk factors: factors V Leiden and prothrombin G20210A in adult Turkish patients with thrombosis. Am J Hematol. 2001 ; 67 (2). 107-111
31. Akar N.. Factor V 1691 G-A mutation distribution in a health Turkish Population. Turk J Hematol. 2009 ; 26 (1). 9-11
32. Atasay B, Arsan S, Gunlemez A, Kemahli S, Akar N.. Factor V Leiden and prothrombin gene 20210A variant in neonatal thromboembolism and in healthy neonates and adults: a study in a single center. Pediatr Hematol Oncol. 2003 ; 20 (8). 627-634 (Pubitemid 37462987)
33. Altinisik J, Ates O, Ulutin T, Cengiz M, Buyru N.. Factor V Leiden, prothrombin G20210A, and protein C mutation frequency in Turkish venous thrombosis patients. Clin Appl Thromb Hemost. 2008 ; 14 (4). 415-420
34. Erkekol FO, Ulu A, Numanoglu N, Akar N.. High plasma levels of factor VIII: an important risk factor for isolated pulmonary embolism. Respirology. 2006 ; 11 (1). 70-74
35. Oguzulgen IK, Ekim NN, Akar N, Demirel K, Kitapci M.. The role of thrombophilic risk factors in the severity of pulmonary thromboembolism. Eur Respir J. 2002 ; 19 (4). 709-711 (Pubitemid 34285169)
36. Oguzulgen IK, Yilmaz E, Demirtas S, et al. The role of plasminogen activator inhibitor-1 polymorphism, factor-V-Leiden, and prothrombin-20210 mutations in pulmonary thromboembolism. Clin Appl Thromb Hemost. 2009 ; 15 (1). 73-77
37. Martinelli I, Cattaneo M, Panzeri D, Mannucci PM.. Low prevalence of factor V: Q506 in 41 patients with isolated pulmonary embolism. Thromb Haemost. 1997 ; 77 (3). 440-443 (Pubitemid 27121005)
38. Manten B, Westendorp RG, Koster T, Reitsma PH, Rosendaal FR.. Risk factor profiles in patients with different clinical manifestations of venous thromboembolism: a focus on the factor V Leiden mutation. Thromb Haemost. 1996 ; 76 (4). 510-513 (Pubitemid 26372002)
39. Turkstra F, Karemaker R, Kuijer PM, Prins MH, Büller HR.. Is the prevalence of the factor V Leiden mutation in patients with pulmonary embolism and deep vein thrombosis really different?. Thromb Haemost. 1999 ; 81 (3). 345-348 (Pubitemid 29116600)
40. Margaglione M, Brancaccio V, De Lucia D, et al. Inherited thrombophilic risk factors and venous thromboembolism: distinct role in peripheral deep venous thrombosis and pulmonary embolism. Chest. 2000 ; 118 (5). 1405-1411
41. Meyer G, Emmerich J, Helley D, et al. Factors V leiden and II 20210A in patients with symptomatic pulmonary embolism and deep vein thrombosis. Am J Med. 2001 ; 110 (1). 12-15 (Pubitemid 32056321)
42. Okumus G, Kiyan E, Arseven O, et al. Hereditary thrombophilic risk factors and venous thromboembolism in Istanbul, Turkey: the role in different clinical manifestations of venous thromboembolism. Clin Appl Thromb Hemost. 2008 ; 14 (2). 168-173 (Pubitemid 351364016)
43. Hillarp A, Zöller B, Svensson PJ, Dahlbäck B.. The 20210 A allele of the prothrombin gene is a common risk factor among Swedish outpatients with verified deep venous thrombosis. Thromb Haemost. 1997 ; 78 (3). 990-992 (Pubitemid 27417288)
44. Lu Y, Zhao Y, Liu G, Wang X, Liu Z, Chen B, Hui R.. Factor V gene G1691A mutation, prothrombin gene G20210A mutation, and MTHFR gene C677T mutation are not risk factors for pulmonary thromboembolism in Chinese population. Thromb Res. 2002 ; 106 (1). 7-12 (Pubitemid 34879958)
45. Akar N, Misirlioǧlu M, Akar E, Avcu F, Yalçin A, Sözüöz A.. Prothrombin gene 20210 G-A mutation in the Turkish population. Am J Hematol. 1998 ; 58 (3). 249 (Pubitemid 28303561)
46. Emmerich J, Rosendaal FR, Cattaneo M, et al. Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism-pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous Thromboembolism. Thromb Haemost. 2001 ; 86 (3). 809-816 (Pubitemid 32834190)
47. Fermo I, Vigano' D'Angelo S, Paroni R, Mazzola G, Calori G, D'Angelo A.. Prevalence of moderate hyperhomocysteinemia in patients with early-onset venous and arterial occlusive disease. Ann Intern Med. 1995 ; 123 (10). 747-753
48. Bezemer ID, Doggen CJ, Vos HL, Rosendaal FR.. No association between the common MTHFR 677C->T polymorphism and venous thrombosis: results from the MEGA study. Arch Intern Med. 2007 ; 167 (5). 497-501 (Pubitemid 46425663)
49. Lunghi B, Iacoviello L, Gemmati D, et al. Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma. Thromb Haemost. 1996 ; 75 (1). 45-48 (Pubitemid 26051193)
50. Francis CW.. Plasminogen activator inhibitor-1 levels and polymorphisms. Arch Pathol Lab Med. 2002 ; 126 (11). 1401-1404
51. Sartori MT, Wiman B, Vettore S, Dazzi F, Girolami A, Patrassi GM.. 4G/5G polymorphism of PAI-1 gene promoter and fibrinolytic capacity in patients with deep vein thrombosis. Thromb Haemost. 1998 ; 80 (6). 956-960 (Pubitemid 28556699)
52. Schulman S, Wiman B.. The significance of hypofibrinolysis for the risk of recurrence of venous thromboembolism. Duration of Anticoagulation (DURAC) Trial Study Group. Thromb Haemost. 1996 ; 75 (4). 607-611 (Pubitemid 26141443)
53. 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 (1). 59-62 (Pubitemid 27029943)
54. Stegnar M, Uhrin P, Peternel P, et al. The 4G/5G sequence polymorphism in the promoter of plasminogen activator inhibitor-1 (PAI-1) gene: relationship to plasma PAI-1 level in venous thromboembolism. Thromb Haemost. 1998 ; 79 (5). 975-979 (Pubitemid 28224735)
55. Yalmaz E, Akar E, Akar N.. Effect of PAI-1 4G/5G polymorphisim in Turkish deep vein thromboembolic patients with and without prothrombin 20210G-A. Turk J Hematol. 2004 ; 21 (2). 83-86 (Pubitemid 38931399)
56. Zöller B, García de Frutos P, Dahlbäck B.. A common 4G allele in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene as a risk factor for pulmonary embolism and arterial thrombosis in hereditary protein S deficiency. Thromb Haemost. 1998 ; 79 (4). 802-807 (Pubitemid 28163858)
57. Visanji JM, Seargent J, Tahri D, et al. Influence of the -675 4G/5G dimorphism of the plasminogen activator inhibitor 1 promoter on thrombotic risk in patients with factor V Leiden. Br J Haematol. 2000 ; 110 (1). 135-138 (Pubitemid 30625602)
58. Tsantes AE, Nikolopoulos GK, Bagos PG, et al. Association between the plasminogen activator inhibitor-1 4G/5G polymorphism and venous thrombosis. A meta-analysis. Thromb Haemost. 2007 ; 97 (6). 907-913 (Pubitemid 46939203)
59. Franco RF, Maffei FH, Lourenço D, et al. Factor V Arg306 - >Thr (factor V Cambridge) and factor V Arg306->Gly mutations in venous thrombotic disease. Br J Haematol. 1998 ; 103 (3). 888-890 (Pubitemid 28545336)