Factor V Leiden and prothrombin G20210A among Chilean patients with venous and arterial thrombosis;Factor V Leiden y mutación de la protrombina G20210A en pacientes con trombosis venosa y arterial

Revista Medica de Chile

Volumn 133, Issue 12, 2005, Pages 1425-1433

  Ivan Palomo G ^a,e   Jaime Pereira, G ^b   Marcelo Alarcon L ^a,e   Carmen Pinochet, P ^c   Maria T Velez S M ^d,e   Patricia Hidalgo, P ^b,e   Skagerberg, Karin ^a   Fernando Poblete, C ^a,e  

^a UNIVERSIDAD DE TALCA   (Chile)

^b PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^c UNIVERSIDAD SAN SEBASTIÁN   (Chile)

^d HOSPITAL REGIONAL DE TALCA   (Chile)

^e Tecnólogo Médico ^*

Author keywords

Deficiency; Factor V; Prothrombin; Thromboembolism; Venous thrombosis

Indexed keywords

BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 5 LEIDEN; PROTHROMBIN;

ARTICLE; CASE CONTROL STUDY; CHILE; FEMALE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HUMAN; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; RISK; RISK FACTOR; THROMBOSIS; VEIN THROMBOSIS;

CASE-CONTROL STUDIES; CHILE; FACTOR V; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; ODDS RATIO; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PROTHROMBIN; RISK FACTORS; THROMBOSIS; VENOUS THROMBOSIS;

EID: 32244447480     PISSN: 00349887     EISSN: 07176163     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. ROSENDAAL FR Risk factors for venous thrombotic disease. Thromb Haemost 1999; 82: 610-9.
2. ROSENDAAL FR Risk factors for venous thrombosis: prevalence, risk, and interaction. Semin Hematol 1997; 34: 171-87.
3. POORT SR, ROSENDAAL FR, REITSMA PH, BERHNA 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 ttirombosis. Blood 1996; 88: 3698-703.
4. ROSENDAAL FR, KbSTER T, VANDENBRDUCKE JP, REITSMA PH. High risk of thrombosis in patients homo zygous for factor V Leiden (activated protein C resistance). Blood 1995; 85: 1504-8.
5. DAHLBACK B, CARLSSON M, SVENSSON PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein G prediction of a cofactor to activated protein C Proc Natl Acad Sci USA 1993; 90: 1004-8.
6. BERTTNA RM, KOEIEMAN BP, KOSTER T, RQSENDAAL FR, DIRVEN RJ, DE RONDE H ET AL Mutation in blood coagulation factor V associated with resistance to activated protein C Nature 1994; 369: 64-7.
7. KOSTER T, ROSENDAAL 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: 1503-6.
8. ENDLER G, MANNHALIER C Polymorphisms in coagulation factor genes and their impact on arterial and venous thrombosis. Clin Chim Acta 2003; 330: 31-55.
9. SVENSSON PJ, DAHLBACK B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330: 517-22.
10. RIDKER PM HENNEKENS CH, LINDPAINTNER K, STAMPFER MJ, EISENBERG PR, MILETICH JP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med 1995; 332: 912-7.
11. REES DC, COX M CIEGG JB. World distribution of factor V Leiden. Lincet 1995; 346: 1133-4.
12. RIDKER PM, MILETICH JP, HENNEKENS CH, BURING JE. Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screening. JAMA 1997; 277: 1305-7.
13. HEPNER M, ROLDAN A, PIERONI G, FRONTROTH JP, SERVIDDIO RM TORRES AF ET AL Factor V Leiden mutation in the Argentinian population. Thromb Haemost 1999; 81: 989.
14. SOLTO JC, MATEO J, SORIA JM, LUOBET D, COLL I, BORRELL M ET AL Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism. Haematologica 1999; 84: 627-32.
15. SOUTO JC ALMASY L, BORRELL M, GARI M, MARTÍNEZ E, MATEO J ET AL Genetic determinants of hemostasis phenotypes in Spanish families. Circulation 2000; 101: 1546-51.
16. MITCHELL CA, JANE SM SALEM HH. Inhibition of the anticoagulant activity of protein S by prothrombin. J Clin Invest 1988; 82: 2142-7.
17. KOENEN RR, TANS G, VAN OERLE R, HAMULYAK K, ROSING J, HACKENG TM The APC-independent anticoagulant activity of protein S in plasma is decreased by elevated prothrombin levels due to the prothrombin G20210A mutation. Blood 2003; 102: 1686-92.
18. SOUTO JC, COLL I, LLOBET D, DEL RIO E, OUVER A, MATED J ET AL The prothrombin 20210A allele is the most prevalent genetic risk factor for venous thromboembolism in the Spanish population. Thromb Haemost 1998; 80: 366-9.
19. BROWN K, LUDDINGTON R, WILLIAMSON D, BAKER P, BAGLLN T. Risk of venous thromboembolism associated with a G to A transition at position 20210 in the 3'-untranslated region of the prothrombin gene. Br J Haematol 1997; 98: 907-9.
20. ARRUDA VR, ANNICHINO-BIZZACCHI JM, GONCALVES MS, COSTA FF. Prevalence of the prothrombin gene variant (nt20210A) in venous thrombosis and arterial disease. Thromb Haemost 1997; 78:1430-3.
21. DE STEFANO V, CHIUSOLO P, PACIARONI, K, CASORELU I, DI MARIO A, ROSSI E ET AL Prevalence of the factor II G20210A mutation in symptomatic patients with inherited thrombophilia. Thromb Haemost 1998; 80: 342-3.
22. FERRARESI P, MARCHETTI G, LEGNANI C, CAVAILARI 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 Vase Biol 1997; 17: 2418-22.
23. RALLIDIS LS, BELESI Q, MANIOUDAKI HS, CHATZIIOAKIMIDIS VK, FAKITSA VC, SINOS LE ET AL Myocardial infarction under the age of 36: prevalence of thrombophilic disorders. Thromb Haemost 2003; 90: 272-8.
24. ROSENDAAL FR, SISCOVICK DS, SCHWARTZ SM, PSATY BM, RAGHUNATHAN TE, Vos HL A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. Blood 1997; 90: 1747-50.
25. ROSENDAAL FR, DOGGEN CJ, ZIVELIN A, ARRUDA VR, AIACH M, SISCOVICK DS ET AL Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost 1998; 79: 706-8.
26. ARNUTTI P, NATHALANG O, COWAWINTAWEEWAT S, PRAYOONWIWAT W, CHOOVICHIAN P. Factor V Leiden and prothrombin G20210A mutations in Thai patients awaiting kidney transplant. Southeast Asian J Trop Med Public Health 2002; 33: 869-71.
27. GAREWAL G, DAS R, AHLUWALIA J, MITTAL N, VARMA S. Prothrombin G20210A is not prevalent in North India. J Thromb Haemost 2003; 1: 2253-4.
28. DOWLING NF, AUSTIN H, DILLEY A, WHITSETT C, EVATT BL HOOPER WC The epidemiology of venous thromboembolism in Caucasians and African-Americans: the GATE Study. J Thromb Haemost 2003; 1: 80-7.
29. ZALAVRAS CH G, GIOTOPOULOU S, DOKDU E, MITSIS M, IOANNOU HV, TSAOUSI C ET AL Prevalence of the G20210A prothrombin gene mutation in Northwestern Greece and association with venous thromboembolism. Int Angiol 2003; 22: 55-7.
30. DE MAAT MP, BLADBJERG EM, JOHANSEN LG, GRAM J, JESPERSEN J. Absence of prothrombin mutation in Inuit (Greenland Eskimos). Thromb Haemost 1998; 79: 882.
31. LAHIRI DK, NURNBERGER JI JR. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991; 19: 5444.
32. CRIPE ID, MOORE KD, KANE WH Structure of the gene for human coagulation factor V. Biochemistry 1992; 31: 3777-85.
33. POORT SR, BERTINA RM, Vos HL Rapid detection of the prothrombin 20210 A variation by allele specific PCR Thromb Haemost 1997; 78: 1157-8.
34. ALLAART CF, POORT SR, ROSENDAAL FR, REITSMA PH BERTINA RM, BRIET E. Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. Lancet 1993; 341: 134-8.
35. REICH LM BOWER M, KEY NS. Role of the geneticist in testing and counseling for inherited thrombophilia. Genet Med 2003; 5: 133-43.
36. HATZAKI A, ANAGNOSTOPOULOU E, METAXA-MARTATOU V, MEUSSINOS C, PHILAUTHIS P, IUADIS K ET AL The impact of heterozygosity for the factor V Leiden and factor II G20210A mutations on the risk of thrombosis in Greek patients. Int Angiol 2003; 22: 79-82.
37. ADAMCZUK Y, IGLESIAS VAREIA ML, FORASTIERO R, MARTINUZZO M, CERRATO G, POMBO G ET AL Factor V Leiden and prothrombin G20210 A variant are risk factors for venous thromboembolism in the Argentinean population. Thromb Haemost 2000; 83: 509-10.
38. YANQING H, FANGPING C, QINZHI X, ZAIFU J, GUANG-PING W, XIAOXIA Z ET AL No association between thrombosis and factor V gene polymorphisms in Chinese Han population. Thromb Haemost 2003; 89: 446-51.
39. NGUYEN A Prothrombin G20210A polymorphism and thrombophilia. Ma yo Clin Proc 2000; 75: 595-604.
40. PERETRA J, QUIROGA T, GOYCOOLEA M, MUÑOZ B, HDALGO P, KALTWASSER G ET AL [Activated C protein resistance: laboratory study and prevalence of the defect in the Chilean population]. Rev Méd Chile 1996; 124: 663-8.
41. DEMERS C, GINSBERG JS, HIRSH J, HENDERSON P, BLAJCHMAN MA Thrombosis in antithrombin-III-deficient persons. Report of a large kindred and literature review. Ann Intern Med 1992; 116: 754-61.