2010, Number 2
<< Back Next >>
Cir Cir 2010; 78 (2)
Asociación de la RPCA con mutaciones Leiden y Cambridge del factor V de la coagulación en pacientes mexicanos con trombofilia primaria
Zavala-Hernández C, Hernández-Zamora E, Martínez-Murillo C, Arenas-Sordo ML, González-Orozco AE, Reyes-Maldonado E
Language: Spanish
References: 29
Page: 131-136
PDF size: 303.63 Kb.
ABSTRACT
Background: Leiden and Cambridge factor V coagulation mutations and activated protein C resistance (APCR) are alterations related with vein and artery thrombosis. In this study we aimed to determine whether APCR is associated with the presence of Leiden and Cambridge mutation and the frequency of these mutations in the racially mestizo Mexican population.
Methods: We included 150 Mexican patients with primary thrombophilia and 100 healthy subjects in this study. APCR was determined using commercial methods and genotypes FV Leiden and FV Cambridge with PCR-RFLPs.
Results: APCR was positive in four patients and in one control individual; however, there was no presence of Leiden or Cambridge mutation in the studied group; thus, APCR was not correlated with the presence of any of the studied mutations.
Conclusions: These results indicate that there are other primary or secondary causes different from those studied, which condition the presence of APCR. Furthermore, the frequency obtained for APCR in our thrombophilic population of racially mixed Mexicans is lower compared to that obtained in the Caucasian population, most probably because they are genetically different populations.
REFERENCES
Nizzi FA, Kaplan HS. Protein C and S deficiency. Semin Thromb Hemos 1999;25;265-272.
Völzke H, Wolff B, Grimm R, Robinson DM, Schuster G, Herrmann FH, et al. Interaction between factor V Leiden and serum LDL cholesterol increases the risk of atherosclerosis. Atherosclerosis 2005;180:341-347.
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 USA 1993;90:1004-1008.
Tripodi A. A review of the clinical and diagnostic utility of laboratory tests for the detection of congenital thrombophilia. Semin Thromb Hemost 2005;31:25-32.
Dahlbäck B. Blood coagulation. Lancet 2000;355:1627-1632.
Dahlbäck B. Inherited thrombophilia: resistance to activated protein C as a pathogenic factor of venous thromboembolism. Blood 1995;85:607-614.
Lengyel T, Sasvari-Szekely M, Guttman A. High-throughput genotyping of factor V Leiden mutation by ultrathin-layer agarose gel electrophoresis. J Chromatogr A 1999;853:519-525.
Álvarez A, Barroso A, Robledo M, Arranz E, Outeiriño J, Benítez J. Prevalence of factor V Leiden and the G20210A mutation of the prothrombin gene in a random group of patients with thrombotic episodes. Sangre 1999;44:7-12.
Endler G, Mannhalter C. Polymorphisms in coagulation factor genes and their impact on arterial and venous thrombosis. Clin Chim Acta 2003;330:31-55.
Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-67.
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. Blood1998;91:1140-1144.
Dahlbäck B. Activated protein C resistance and thrombosis: molecular mechanisms of hypercoagulable state due to FVR506Q mutation. Semin Thromb Hemost 1999;25:273-289.
Patrushev LI, Zykova ES, Kayushin AL, Korosteleva MD, Miroshnikov AI, Bokarew IN, et al. New DNA diagnostic system for detection of factor V Leiden. Thromb Res 1998;92:251-259.
Ahmed RP, Gupta PK, Kannan M, Choudhry VP, Saxena R. Factor V Leiden. The commonest molecular defect in arterial and venous thrombophilia in India. Thromb Res 2003;110:19-21.
Montesinos JJ, Sánchez-Valle E, Miranda-Peralta E, Gutiérrez-Romero M, Mayani H. Effect of rhGM-CSF on the kinetics of hematopoiesis in long-term marrow cultures from patients with acute myelogenous leukemia. Leuk Lymphoma 2002;43:2383-2390.
Dupérat VG, Fauchon M, Nurden AT, Vergnes C. Simple and rapid combined genetic diagnosis of mutation (1691 G-->A) of the factor V gene and (20210 G--> A) of the prothrombin gene. Blood Coagul Fibrinolysis 1998;9:549-551.
Lillicrap D. Molecular diagnosis of inherited bleeding disorders and thrombophilia. Semin Hematol 1999;36:340-351.
Ruiz-Argüelles GJ, López-Martínez B, Valdés-Tapia P, Gómez-Rangel JD, Reyes-Núñez V, Garcés-Eisele J. Primary thrombophilia in Mexico. V. A comprehensive prospective study indicates that most cases are multifactorial. Am J Hematol 2005;78:21-26.
Majluf-Cruz A, Moreno-Hernández M, Ruiz de Chávez-Ochoa A, Monroy-García R, Majluf-Cruz K, Guardado-Mendoza R, et al. Activated protein C resistance and factor V Leiden in Mexico. Clin Appl Thromb Hemost 2008;14:428-437.
Kraus M. The anticoagulant potential of the protein C system in hereditary and acquired thrombophilia: pathomechanisms and new tools for assessing its clinical relevance. Semin Thromb Hemost 1998;24:337-354.
Palomo I, Pereira J, Alarcón M, Pinochet C, Vélez MT, Hidalgo P, et al. Factor V Leiden and prothrombin G20210A among Chilean patients with venous and arterial thrombosis. Rev Med Chil 2005;133:1425-1433.
Genoud V, Castañón M, Annichino-Bizzacchi J, Korin J, Kordich L. Prevalence of three prothrombotic polymorphisms: factor V G1691A, factor II G20210A and methylenetetrahydrofolate reductase (MTHFR) C 677T in Argentina. On behalf of the Grupo Cooperativo Argentino de Hemostasia y Trombosis. Thromb Res 2000;100:127-131.
Yanqing H, Fangping C, Qinzhi X, Zaifu J, Guangping W, Xiaoxia Z, et al. No association between thrombosis and factor V gene polymorphisms in Chinese Han population. Thromb Haemost 2003;89:446-451.
Eid SS, Shubeilat T. Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR G677A among 594 thrombotic Jordanian patients. Blood Coagul Fibrinolysis 2005;16:417-421.
Akar N, Yilmaz E, Akar E, Avcu F, Yalçin A, Cin S. Effect of plasminogen activator inhibitor-1 4G/5G polymorphism in Turkish deep vein thrombotic patients with and without FV1691 G-A. Thromb Res 2000;97:227-230.
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;81:733-738.
Djordjevic V, Rakicevic LJ, Mikovic D, Kovac M, Miljic P, Radojkovic D, et al. Prevalence of factor V Leiden, factor V Cambridge, factor II G20210A and methylenetetrahydrofolate reductase C677T mutations in healthy and thrombophilic Serbian populations. Acta Haematol 2004;112:227-229.
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;85:1504-1508.
Juul K, Tybjaerg-Hansen A, Schnohr P, Nordestgaard BG. Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Ann Intern Med 2004;140:330-337.