factor V


Gene Symbol: factor V
Description: coagulation factor V
Alias: FVL, PCCF, RPRGL1, THPH2, coagulation factor V, activated protein c cofactor, coagulation factor V (proaccelerin, labile factor), coagulation factor V jinjiang A2 domain, factor V Leiden
Species: human
Products:     factor V

Top Publications

  1. Bayston T, Ireland H, Olds R, Thein S, Lane D. A polymorphism in the human coagulation factor V gene. Hum Mol Genet. 1994;3:2085 pubmed
  2. Watanabe H, Hamada H, Yamakawa Kobayashi K, Yoshikawa H, Arinami T. Evidence for an association of the R485K polymorphism in the coagulation factor V gene with severe preeclampsia from screening 35 polymorphisms in 27 candidate genes. Thromb Haemost. 2001;86:1594-5 pubmed
  3. Wu O, Robertson L, Twaddle S, Lowe G, Clark P, Greaves M, et al. Screening for thrombophilia in high-risk situations: systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study. Health Technol Assess. 2006;10:1-110 pubmed
    ..For oral contraceptive use, significant associations of the risk of VTE were found in women with factor V Leiden (FVL); deficiencies of antithrombin, protein C, or protein S, elevated levels of factor VIIIc; and FVL and ..
  4. Dentali F, Galli M, Gianni M, Ageno W. Inherited thrombophilic abnormalities and risk of portal vein thrombosis. a meta-analysis. Thromb Haemost. 2008;99:675-82 pubmed publisher
    ..It was the purpose of this study to assess the risk of PVT associated with factor V Leiden (FVL) and G20210A prothrombin mutation (PTM)...
  5. Barhoover M, Orban T, Beck D, Bukys M, Kalafatis M. Contribution of amino acid region 334-335 from factor Va heavy chain to the catalytic efficiency of prothrombinase. Biochemistry. 2008;47:6840-50 pubmed publisher
    ..We constructed recombinant factor V molecules with the mutations D (334) --> K and Y (335) --> F (factor V (KF)) and D (334) --> A and Y (..
  6. Tormene D, Beltramello P, Perlati M, Brandolin B, Barbar S, De Toffoli G, et al. The risk of cancer progression in women with gynecological malignancies and thrombophilic polymorphisms: a pilot case-control study. Clin Appl Thromb Hemost. 2009;15:535-9 pubmed publisher
    ..case-control study, we assessed the risk of gynecological malignant diseases related to the presence of the factor V Leiden and prothrombin G20210A polymorphisms...
  7. Adamzik M, Frey U, Riemann K, Sixt S, Lehmann N, Siffert W, et al. Factor V Leiden mutation is associated with improved 30-day survival in patients with acute respiratory distress syndrome. Crit Care Med. 2008;36:1776-9 pubmed publisher
    ..The aim of this study was to investigate whether the factor V Leiden mutation (Arg506Gln) is associated with altered severity and/or mortality in acute respiratory distress ..
  8. Steen M, Tran S, Autin L, Villoutreix B, Tholander A, Dahlback B. Mapping of the factor Xa binding site on factor Va by site-directed mutagenesis. J Biol Chem. 2008;283:20805-12 pubmed publisher
    Activated coagulation factor V functions as a cofactor to factor Xa in the conversion of prothrombin to thrombin...
  9. Lindqvist P, Dahlback B. Carriership of Factor V Leiden and evolutionary selection advantage. Curr Med Chem. 2008;15:1541-4 pubmed
    ..A single mutation of coagulation factor V, known as FV Leiden (FVL), can be such a beneficial mutation...

More Information

Publications116 found, 100 shown here

  1. Dudding T, Heron J, Thakkinstian A, Nurk E, Golding J, Pembrey M, et al. Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis. J Thromb Haemost. 2008;6:1869-75 pubmed publisher
    ..and two polymorphisms, one in the factor V gene, the 1691G to A change (rs6025) located on chromosome 1q23 (factor V Leiden, FVL), and the other in the prothrombin gene, 20210G to A change (rs1799963) on chromosome 11p11-q12 (PT)...
  2. Peck G, Smeeth L, Whittaker J, Casas J, Hingorani A, Sharma P. The genetics of primary haemorrhagic stroke, subarachnoid haemorrhage and ruptured intracranial aneurysms in adults. PLoS ONE. 2008;3:e3691 pubmed publisher
    ..Furthermore, a significant protective association against haemorrhagic stroke was found for the factor V Leiden mutation (OR, 0.30; 95% CI, 0.10-0.87; p = 0.03)...
  3. Hiltunen L, Laivuori H, Rautanen A, Kaaja R, Kere J, Krusius T, et al. Blood group AB and factor V Leiden as risk factors for pre-eclampsia: a population-based nested case-control study. Thromb Res. 2009;124:167-73 pubmed publisher
    ..ABO blood group is known from all pregnant women. The value of blood group as risk factor for pre-eclampsia should be further assessed in prospective studies. In this study, FV Leiden was not statistically significant risk factor. ..
  4. Pomp E, Doggen C, Vos H, Reitsma P, Rosendaal F. Polymorphisms in the protein C gene as risk factor for venous thrombosis. Thromb Haemost. 2009;101:62-7 pubmed
    ..In addition the combined effect of the two polymorphisms with factor V Leiden and oral contraceptive use was investigated...
  5. Haapaniemi E, Helenius J, Jakovljević D, Soinne L, Syrjälä M, Kaste M, et al. Ischaemic stroke patients with heterozygous factor V Leiden present with multiple brain infarctions and widespread atherothrombotic disease. Thromb Haemost. 2009;101:145-50 pubmed
    b>Factor V Leiden (FVL) mutation is a risk factor for venous and, to a degree, arterial thrombosis. It is unknown whether and how FVL affects the manifestations of ischaemic stroke (IS)...
  6. Tregouet D, Heath S, Saut N, Biron Andreani C, Schved J, Pernod G, et al. Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. Blood. 2009;113:5298-303 pubmed publisher
    ..However, using this large cohort of subjects, we were able to replicate the mild effects of 2 nonsynonymous SNPs, rs1613662 in GP6 and rs13146272 in CYP4V2, recently suspected to be associated with VTE. ..
  7. Duckers C, Simioni P, Spiezia L, Radu C, Dabrilli P, Gavasso S, et al. Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms. Blood. 2010;115:879-86 pubmed publisher
    b>Coagulation factor V (FV), present in plasma and platelets, is indispensable to thrombin formation, yet patients with undetectable plasma FV seldom experience major bleeding...
  8. Said J, Higgins J, Moses E, Walker S, Borg A, Monagle P, et al. Inherited thrombophilia polymorphisms and pregnancy outcomes in nulliparous women. Obstet Gynecol. 2010;115:5-13 pubmed publisher
    ..Genotyping for factor V Leiden, prothrombin gene mutation, methylenetetrahydrofolate reductase enzyme (MTHFR) C677T, MTHFR A1298C, and ..
  9. Cramer T, Griffin J, Gale A. Factor V is an anticoagulant cofactor for activated protein C during inactivation of factor Va. Pathophysiol Haemost Thromb. 2010;37:17-23 pubmed publisher
    b>Coagulation factor V (FV) promotes inactivation of activated factor VIII (FVIIIa) by activated protein C (APC) and protein S...
  10. Tang W, Teichert M, Chasman D, Heit J, Morange P, Li G, et al. A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. Genet Epidemiol. 2013;37:512-521 pubmed publisher
    ..Future studies are warranted to better characterize the associations with F11 and FGG and to replicate the new candidate associations. ..
  11. Barhoover M, Orban T, Bukys M, Kalafatis M. Cooperative regulation of the activity of factor Xa within prothrombinase by discrete amino acid regions from factor Va heavy chain. Biochemistry. 2008;47:12835-43 pubmed publisher
    ..created recombinant factor Va molecules combining mutations at amino acid regions 334-335 and 695-698 as follows: factor V(3K) ((334)DY(335) --> KF and (695)DYDY(698) --> KFKF), factor V(KF/4A) ((334)DY(335) --> KF and (695)..
  12. Best L, Dorsam S, Nadeau M, Burd L, Anderson C. Genetic thrombophilia variants and risk for preeclampsia among American Indians. Hypertens Pregnancy. 2009;28:85-94 pubmed publisher
    ..The allelic prevalence of the factor V Leiden and 20210 G/A prothrombin variants in this population was 2.1% and 0.5% respectively...
  13. Seremak Mrozikiewicz A, Drews K, Wender Ozegowska E, Mrozikiewicz P. The significance of genetic polymorphisms of factor V Leiden and prothrombin in the preeclamptic Polish women. J Thromb Thrombolysis. 2010;30:97-104 pubmed publisher
    ..Inherited thrombophilias, like polymorphism of factor V (FV) Leiden and prothrombin (PTM) are considered to be involved in the PE development...
  14. HIRBAWI J, Vaughn J, Bukys M, Vos H, Kalafatis M. Contribution of amino acid region 659-663 of Factor Va heavy chain to the activity of factor Xa within prothrombinase . Biochemistry. 2010;49:8520-34 pubmed publisher
    ..We have generated factor V molecules in which all residues were mutated to either lysine (factor V(5K)) or alanine (factor V(5A))...
  15. Vossen C, Hoffmeister M, Chang Claude J, Rosendaal F, Brenner H. Clotting factor gene polymorphisms and colorectal cancer risk. J Clin Oncol. 2011;29:1722-7 pubmed publisher
    ..b>Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen ..
  16. Malek Khosravi S, Rahimi Z, Rahimi Z, Jalilvand F, Parsian A. Thrombophilic mutations and susceptibility to preeclampsia in Western Iran. J Thromb Thrombolysis. 2012;33:109-15 pubmed publisher
    ..study was to investigate the frequency and the possible association between thrombophilic mutations of factor V Leiden (FVL) and prothrombin G20210A with preeclampsia among Kurdish population of Western Iran...
  17. Allon M, Zhang L, Maya I, Bray M, Fernandez J. Association of factor V gene polymorphism with arteriovenous graft failure. Am J Kidney Dis. 2012;59:682-8 pubmed publisher
    ..interaction with the study intervention: methylenetetrahydrofolate reductase (MTHFR), heme oxygenase 1 (HO-1), factor V (F5), transforming growth factor ?1 (TGF?1), klotho, nitric oxide synthase (NOS), and angiotensin-converting ..
  18. Bos M, Camire R. A bipartite autoinhibitory region within the B-domain suppresses function in factor V. J Biol Chem. 2012;287:26342-51 pubmed publisher
    Activation of blood coagulation factor V (FV) is a key reaction of hemostasis...
  19. Clark P, Walker I, Govan L, Wu O, Greer I. The GOAL study: a prospective examination of the impact of factor V Leiden and ABO(H) blood groups on haemorrhagic and thrombotic pregnancy outcomes. Br J Haematol. 2008;140:236-40 pubmed
    b>Factor V Leiden (FVL) and ABO(H) blood groups are the common influences on haemostasis and retrospective studies have linked FVL with pregnancy complications. However, only one sizeable prospective examination has taken place...
  20. Bukys M, Orban T, Kim P, Nesheim M, Kalafatis M. The interaction of fragment 1 of prothrombin with the membrane surface is a prerequisite for optimum expression of factor Va cofactor activity within prothrombinase. Thromb Haemost. 2008;99:511-22 pubmed
    ..Altogether, the data demonstrate that membrane-bound fragment 1 is required to promote optimum Fva cofactor activity which in turn is translated by efficient initial cleavage of prothrombin by prothrombinase at Arg(320). ..
  21. Weger M, Renner W, Pinter O, Stanger O, Temmel W, Fellner P, et al. Role of factor V Leiden and prothrombin 20210A in patients with retinal artery occlusion. Eye (Lond). 2003;17:731-4 pubmed
    ..Numerous studies have shown that two genetic variants, factor V Leiden and prothrombin 20210A, cause a procoagulant state...
  22. Gale A, Yegneswaran S, Xu X, Pellequer J, Griffin J. Characterization of a factor Xa binding site on factor Va near the Arg-506 activated protein C cleavage site. J Biol Chem. 2007;282:21848-55 pubmed
  23. Bukys M, Kim P, Nesheim M, Kalafatis M. A control switch for prothrombinase: characterization of a hirudin-like pentapeptide from the COOH terminus of factor Va heavy chain that regulates the rate and pathway for prothrombin activation. J Biol Chem. 2006;281:39194-204 pubmed
    ..Our data demonstrate that pentapeptide DYDYQ has opposing effects on membrane-bound factor Xa for prothrombin cleavage, depending on the incorporation of factor Va in prothrombinase. ..
  24. Suzuki K, Dahlback B, Stenflo J. Thrombin-catalyzed activation of human coagulation factor V. J Biol Chem. 1982;257:6556-64 pubmed
    Human coagulation factor V was purified from freshly frozen plasma by a method that gave high yields of single chain factor V...
  25. Beck D, Bukys M, Singh L, Szabo K, Kalafatis M. The contribution of amino acid region ASP695-TYR698 of factor V to procofactor activation and factor Va function. J Biol Chem. 2004;279:3084-95 pubmed
    ..6 microm (with a K(D) for prothrombin of 850 nm), and activation of factor V by thrombin. Peptides HC3, HC4, and DYDYQ were also found to interact with immobilized thrombin...
  26. 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;89:446-51 pubmed
    ..And it is significantly linked to a single nucleotide polymorphisms (SNPs) in the coagulation factor V gene that results in the mutations at R506, R306 and HR2 alleles...
  27. Rai R, Shlebak A, Cohen H, Backos M, Holmes Z, Marriott K, et al. Factor V Leiden and acquired activated protein C resistance among 1000 women with recurrent miscarriage. Hum Reprod. 2001;16:961-5 pubmed
    Activated protein C (APC) resistance, both in its congenital form, due to the factor V Leiden mutation, and in its acquired form, are important risk factors for systemic venous thrombosis...
  28. Lin J, August P. Genetic thrombophilias and preeclampsia: a meta-analysis. Obstet Gynecol. 2005;105:182-92 pubmed
    To assess the relationship between the factor V Leiden (1691 G-A) single nucleotide polymorphism (SNP), the methylene tetrahydrofolate reductase (MTHFR) 677 C-T SNP, and the prothrombin 20210 G-A SNP and the risk of preeclampsia, by ..
  29. Erdogan E, Bukys M, Kalafatis M. The contribution of amino acid residues 1508-1515 of factor V to light chain generation. J Thromb Haemost. 2008;6:118-24 pubmed
    ..Our data demonstrate that amino acid residues 1,508-1,515 of FV are required for efficient cleavage by alpha-thrombin and light chain formation. ..
  30. Bertina R, Koeleman B, Koster T, Rosendaal F, Dirven R, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369:64-7 pubmed
    ..phenotype of APC resistance is associated with heterozygosity or homozygosity for a single point mutation in the factor V gene (at nucleotide position 1,691, G-->A substitution) which predicts the synthesis of a factor V molecule (..
  31. Faisel F, Romppanen E, Hiltunen M, Helisalmi S, Laasanen J, Punnonen K, et al. Susceptibility to pre-eclampsia in Finnish women is associated with R485K polymorphism in the factor V gene, not with Leiden mutation. Eur J Hum Genet. 2004;12:187-91 pubmed
    This study determines whether genetic variability in the gene-encoding factor V contributes to differences in pre-eclampsia susceptibility...
  32. Colak Y, Karasu Z, Oruc N, Can C, Balým Z, Akarca U, et al. Hyperhomocysteinaemia and factor V Leiden mutation are associated with Budd-Chiari syndrome. Eur J Gastroenterol Hepatol. 2006;18:917-20 pubmed
    ..We aimed to study the role of hyperhomocysteinaemia, factor V Leiden mutation and G20210A prothrombin gene mutation in the pathogenesis of the syndrome...
  33. Topaloglu R, Akierli C, Bakkaloglu A, Aydintug O, Ozen S, Besbas N, et al. Survey of factor V leiden and prothrombin gene mutations in systemic lupus erythematosus. Clin Rheumatol. 2001;20:259-61 pubmed
    The two most common hereditary risk factors for thrombosis are factor V Leiden mutation and a prothrombin gene mutation...
  34. Frances F, Portoles O, Gabriel F, Corella D, Sorlí J, Sabater A, et al. [Factor V Leiden (G1691A) and prothrombin-G20210A alleles among patients with deep venous thrombosis and in the general population from Spain]. Rev Med Chil. 2006;134:13-20 pubmed
    b>Factor V leiden and the -G20210A variant of prothrombin gene are associated to a higher risk of deep venous thrombosis...
  35. Jun Z, Ping T, Lei Y, Li L, Ming S, Jing W. Prevalence of factor V Leiden and prothrombin G20210A mutations in Chinese patients with deep venous thrombosis and pulmonary embolism. Clin Lab Haematol. 2006;28:111-6 pubmed
    ..Several genetic risk factors, especially factor V Leiden and prothrombin G20210A mutations have been reported to be related to VTE in Caucasians, but the relationship ..
  36. Lunghi B, Iacoviello L, Gemmati D, Dilasio M, Castoldi E, Pinotti M, et al. Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma. Thromb Haemost. 1996;75:45-8 pubmed
    Three novel polymorphisms were found in the repeated region of the large exon 13 of factor V gene, one giving rise to a codon dimorphism (Ser1240) and two causing aminoacid substitutions (His1299Arg, Leu1257Ile)...
  37. Dusse L, Carvalho M, Bragança W, Paiva S, Godoi L, Guimarães D, et al. Inherited thrombophilias and pre-eclampsia in Brazilian women. Eur J Obstet Gynecol Reprod Biol. 2007;134:20-3 pubmed
    ..Differences in the mutation frequencies detected in the two groups were not statistically significant. No correlation was observed between pre-eclampsia and presence of G1691A, G20210A and C677T mutations in Brazilian women. ..
  38. Camire R, Kalafatis M, Tracy P. Proteolysis of factor V by cathepsin G and elastase indicates that cleavage at Arg1545 optimizes cofactor function by facilitating factor Xa binding. Biochemistry. 1998;37:11896-906 pubmed
    The single-chain procofactor factor V is cleaved by thrombin (FVaIIa) at Arg709, Arg1018, and Arg1545 and by a variety of other proteases to generate a cofactor species with various levels of cofactor function...
  39. Kerlin B, Yan S, Isermann B, Brandt J, Sood R, Basson B, et al. Survival advantage associated with heterozygous factor V Leiden mutation in patients with severe sepsis and in mouse endotoxemia. Blood. 2003;102:3085-92 pubmed
    ..The effect of prothrombotic polymorphism, factor V Leiden (Arg506Gln; FV Leiden), was examined in a large clinical trial (PROWESS) of severe sepsis and a mouse ..
  40. Howley H, Walker M, Rodger M. A systematic review of the association between factor V Leiden or prothrombin gene variant and intrauterine growth restriction. Am J Obstet Gynecol. 2005;192:694-708 pubmed
    ..study was to conduct a systematic review of the literature of studies that examined the association between factor V Leiden and/or prothrombin gene variant and intrauterine growth restriction...
  41. Dawood F, Mountford R, Farquharson R, Quenby S. Genetic polymorphisms on the factor V gene in women with recurrent miscarriage and acquired APCR. Hum Reprod. 2007;22:2546-53 pubmed
    ..The factor V Leiden mutation located on the B domain of the factor V gene, causes 95% of APCR and since the B domain is pivotal ..
  42. 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;91:1140-4 pubmed
    ..first description of a mutation affecting the Arg306 APC cleavage site and is the only mutation, other than factor V Leiden (Arg506-->Gln), that has been found in association with APC resistance...
  43. Hira B, Pegoraro R, Rom L, Moodley J. Absence of Factor V Leiden, thrombomodulin and prothrombin gene variants in Black South African women with pre-eclampsia and eclampsia. BJOG. 2003;110:327-8 pubmed
    ..Genotyping was performed to detect the G or A allele at residue 506 of the Factor V gene, and the C or T allele at residue 455 of the thrombomodulin gene...
  44. Chopra N, Koren S, Greer W, Fortin P, Rauch J, Fortin I, et al. Factor V Leiden, prothrombin gene mutation, and thrombosis risk in patients with antiphospholipid antibodies. J Rheumatol. 2002;29:1683-8 pubmed
    To determine if the prevalence of 2 prothrombotic genetic factors, factor V Leiden and prothrombin gene mutation, is increased in patients with antiphospholipid (aPL) antibodies with a history of venous/arterial thrombosis compared to ..
  45. Kumar S, Kumar A, Srivastava S, Saraswat V, Aggarwal R. Low frequency of factor V Leiden and prothrombin G20210A mutations in patients with hepatic venous outflow tract obstruction in northern India: a case-control study. Indian J Gastroenterol. 2005;24:211-5 pubmed
    b>Factor V Leiden (FVL) and prothrombin gene (G20210A) mutations are known to be associated with venous thromboembolism. Several studies have shown an association of these mutations with hepatic venous outflow tract obstruction (HVOTO)...
  46. Chang J, Hur M, Lee S, Yoo J, Lee K. Genetic background of nontraumatic osteonecrosis of the femoral head in the Korean population. Clin Orthop Relat Res. 2008;466:1041-6 pubmed publisher
    ..We analyzed factor V G1691A mutation (factor V Leiden), prothrombin G20210A mutation, and methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in 71 ..
  47. Forastiero R, Martinuzzo M, Adamczuk Y, Varela M, Pombo G, Carreras L. The combination of thrombophilic genotypes is associated with definite antiphospholipid syndrome. Haematologica. 2001;86:735-41 pubmed
    ..A control group of 200 healthy subjects was also investigated for the presence of factor V Leiden (FVL), the 20210A allele of the prothrombin (PT-20210A) gene, the thermolabile variant (677TT) of ..
  48. Almawi W, Ameen G, Tamim H, Finan R, Irani Hakime N. Factor V G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677T gene polymorphism in angiographically documented coronary artery disease. J Thromb Thrombolysis. 2004;17:199-205 pubmed
    Single point mutations in the genes coding for factor V [G1691A; Leiden], prothrombin [PRT; G20210A], and methylenetetrahydrofolate reductase [MTHFR, C677T] were shown to be major inherited predisposing factors for venous thromboembolism...
  49. Paspatis G, Sfyridaki A, Papanikolaou N, Triantafyllou K, Livadiotaki A, Kapsoritakis A, et al. Resistance to activated protein C, factor V leiden and the prothrombin G20210A variant in patients with colorectal cancer. Pathophysiol Haemost Thromb. 2002;32:2-7 pubmed
    The aim of our study was to determine the frequency of resistance to activated protein C (APC), factor V Leiden (FVL) and the prothrombin G20210A variant in patients with colorectal cancer...
  50. Prasmusinto D, Skrablin S, Fimmers R, van der Ven K. Ethnic differences in the association of factor V Leiden mutation and the C677T methylenetetrahydrofolate reductase gene polymorphism with preeclampsia. Eur J Obstet Gynecol Reprod Biol. 2004;112:162-9 pubmed
    This case-control study evaluates the association of the factor V Leiden mutation with preeclampsia and potential synergistic effects of the MTHFR-677T and factor V Leiden mutations with regard to disease risk in two different ethnic ..
  51. Arsov T, Miladinova D, Spiroski M. Factor V Leiden is associated with higher risk of deep venous thrombosis of large blood vessels. Croat Med J. 2006;47:433-9 pubmed
    To determine the prevalence of factor V Leiden mutation in patients with different presentation of venous thromboembolic disease and healthy individuals in the Republic of Macedonia...
  52. Martinelli I, Taioli E, Cetin I, Marinoni A, Gerosa S, Villa M, et al. Mutations in coagulation factors in women with unexplained late fetal loss. N Engl J Med. 2000;343:1015-8 pubmed
    b>Factor V and prothrombin-gene mutations are independent risk factors for venous thrombosis; it is debated whether a mutation in the gene encoding methylenetetrahydrofolate reductase, an enzyme involved in homocysteine metabolism, also ..
  53. Zangari M, Saghafifar F, Anaissie E, Badros A, Desikan R, Fassas A, et al. Activated protein C resistance in the absence of factor V Leiden mutation is a common finding in multiple myeloma and is associated with an increased risk of thrombotic complications. Blood Coagul Fibrinolysis. 2002;13:187-92 pubmed
    ..patients (23%) were found to have a baseline-reduced response to activated protein C (APC) in the absence of factor V Leiden mutation...
  54. Carp H, Salomon O, Seidman D, Dardik R, Rosenberg N, Inbal A. Prevalence of genetic markers for thrombophilia in recurrent pregnancy loss. Hum Reprod. 2002;17:1633-7 pubmed
    The genetic predispositions to venous thrombosis such as factor V Leiden (FVL) mutation (Arg 506 Gln), prothrombin (FII) gene mutation (G20210A), and mutation of the methylenetetrahydrofolate reductase (MTHFR) gene (C677T) have been ..
  55. Lu Y, Zhao Y, Liu G, Wang X, Liu Z, Chen B, et al. 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;106:7-12 pubmed
    A mutation in coagulant factor V gene, a substitution in the 3' untranslated region of prothrombin gene, and a variant in 5,10-methylenetetrahydrofolate reductase (MTHFR) gene have been reported to be related to venous thromboembolism in ..
  56. Kalafatis M, Beck D. Identification of a binding site for blood coagulation factor Xa on the heavy chain of factor Va. Amino acid residues 323-331 of factor V represent an interactive site for activated factor X. Biochemistry. 2002;41:12715-28 pubmed
    ..Our data demonstrate that amino acid sequence 323-331 of factor Va heavy chain contains a binding site for factor Xa. ..
  57. Davalos I, Moran M, Martinez Abundis E, Gonzalez Ortiz M, Flores Martinez S, Machorro V, et al. Methylenetetrahydrofolate reductase C677T polymorphism and Factor V Leiden variant in Mexican women with preeclampsia/eclampsia. Blood Cells Mol Dis. 2005;35:66-9 pubmed
    ..We studied single nucleotide polymorphisms for MTHFR C677T and coagulation Factor V Leiden in 33 Mexican patients with PE/E as a genetic risk factor for these diseases, comparing with a ..
  58. D Elia A, Driul L, Giacomello R, Colaone R, Fabbro D, Di Leonardo C, et al. Frequency of factor V, prothrombin and methylenetetrahydrofolate reductase gene variants in preeclampsia. Gynecol Obstet Invest. 2002;53:84-7 pubmed
    ..Genotypes were determined by polymerase chain reaction. The frequency of heterozygous carriers of the factor V Leiden was similar between PE women (5.2%) compared to the control subjects (4.1%; p 0.76)...
  59. Kalafatis M, Beck D, Mann K. Structural requirements for expression of factor Va activity. J Biol Chem. 2003;278:33550-61 pubmed
    ..5 nM. A protease (NN) purified from the venom of the snake Naja nigricollis nigricollis, cleaves human factor V at Asp697, Asp1509, and Asp1514 to produce a molecule (factor VNN) that is composed of a Mr 100,000 heavy chain (..
  60. Orfeo T, Brufatto N, Nesheim M, Xu H, Butenas S, Mann K. The factor V activation paradox. J Biol Chem. 2004;279:19580-91 pubmed
    ..The activation of the procofactor, factor V, to factor Va is an essential reaction that occurs early in the process of tissue factor-initiated blood ..
  61. Auro K, Alanne M, Kristiansson K, Silander K, Kuulasmaa K, Salomaa V, et al. Combined effects of thrombosis pathway gene variants predict cardiovascular events. PLoS Genet. 2007;3:e120 pubmed
    ..We investigated the role of four thrombosis genes: coagulation factor V (F5), intercellular adhesion molecule 1 (ICAM1), protein C (PROC), and thrombomodulin (THBD) in ..
  62. Pittman D, Tomkinson K, Michnick D, Selighsohn U, Kaufman R. Posttranslational sulfation of factor V is required for efficient thrombin cleavage and activation and for full procoagulant activity. Biochemistry. 1994;33:6952-9 pubmed
    Factor VIII and factor V function as cofactors in the blood coagulation cascade to accelerate the rate of activation of factor X and prothrombin, respectively...
  63. Steen M, Villoutreix B, Norstrøm E, Yamazaki T, Dahlback B. Defining the factor Xa-binding site on factor Va by site-directed glycosylation. J Biol Chem. 2002;277:50022-9 pubmed
    Activated Factor V (FVa) functions as a membrane-bound cofactor to the enzyme Factor Xa (FXa) in the conversion of prothrombin to thrombin, increasing the catalytic efficiency of FXa by several orders of magnitude...
  64. Toso R, Camire R. Removal of B-domain sequences from factor V rather than specific proteolysis underlies the mechanism by which cofactor function is realized. J Biol Chem. 2004;279:21643-50 pubmed
    b>Factor V, the precursor of factor Va, circulates in plasma with little or no procoagulant activity...
  65. Bukys M, Blum M, Kim P, Brufatto N, Nesheim M, Kalafatis M. Incorporation of factor Va into prothrombinase is required for coordinated cleavage of prothrombin by factor Xa. J Biol Chem. 2005;280:27393-401 pubmed
    ..These data indicate that the interaction of factor Xa with the heavy chain of factor Va strongly influences the catalytic activity of the enzyme resulting in increased rates for both prothrombin-activating cleavages. ..
  66. Demirer A, Alikasifoglu M, Tuncbilek E, Karakus S, Erbas T. Factor V Leiden mutation and type 1 diabetes mellitus. Blood Coagul Fibrinolysis. 2008;19:70-4 pubmed publisher
    ..common causes of venous thrombosis and linked to a single point mutation in the factor V gene, designated as factor V Leiden mutation. There is little information regarding the status of factor V Leiden mutation in type 1 diabetes...
  67. Ioannou H, Mitsis M, Eleftheriou A, Matsagas M, Nousias V, Rigopoulos C, et al. The prevalence of factor V Leiden as a risk factor for venous thromboembolism in the population of North-Western Greece. Int Angiol. 2000;19:314-8 pubmed
    Many predisposing factors have been associated with the development of venous thromboembolism. Recently, Factor V Leiden has been described as a common genetic risk factor...
  68. Juul K, Tybjaerg Hansen A, Steffensen R, Kofoed S, Jensen G, Nordestgaard B. Factor V Leiden: The Copenhagen City Heart Study and 2 meta-analyses. Blood. 2002;100:3-10 pubmed
    b>Factor V Leiden (FVL) is associated with venous thrombosis; however, an association between FVL and arterial thrombosis remains controversial...
  69. Battistelli S, Stefanoni M, Genovese A, Vittoria A, Cappelli R, Roviello F. Prevalence of factor V Leiden and prothrombin G20210A in patients with gastric cancer. World J Gastroenterol. 2006;12:4179-80 pubmed
    To analyze the prevalence of the two commonest thrombophilic mutations, factor V Leiden and prothrombin G20210A, in patients with gastric cancer...
  70. Kohlmeier R, Cho C, Bux R, Guerra L, Rulon J, Selby D, et al. Prothrombin gene mutation uncommon in pulmonary embolism. South Med J. 2000;93:1073-7 pubmed
    ..venous thrombosis, including mutation at position 20210 of the prothrombin gene and mutation at codon 506 of the factor V gene...
  71. von Tempelhoff G, Heilmann L, Spanuth E, Kunzmann E, Hommel G. Incidence of the factor V Leiden-mutation, coagulation inhibitor deficiency, and elevated antiphospholipid-antibodies in patients with preeclampsia or HELLP-syndrome. Hemolysis, elevated liver-enzymes, low platelets. Thromb Res. 2000;100:363-5 pubmed
  72. Deltenre P, Denninger M, Hillaire S, Guillin M, Casadevall N, Briere J, et al. Factor V Leiden related Budd-Chiari syndrome. Gut. 2001;48:264-8 pubmed
    The role of factor V Leiden as a cause of Budd-Chiari syndrome has only recently been described. To assess the specific features of factor V Leiden related Budd-Chiari syndrome...
  73. Middeldorp S, Meinardi J, Koopman M, van Pampus E, Hamulyak K, van der Meer J, et al. A prospective study of asymptomatic carriers of the factor V Leiden mutation to determine the incidence of venous thromboembolism. Ann Intern Med. 2001;135:322-7 pubmed
    The factor V Leiden mutation is a common genetic defect associated with an increased risk for venous thromboembolism...
  74. Reznikoff Etiévan M, Cayol V, Carbonne B, Robert A, Coulet F, Milliez J. Factor V Leiden and G20210A prothrombin mutations are risk factors for very early recurrent miscarriage. BJOG. 2001;108:1251-4 pubmed
    ..whether there is an association between early recurrent miscarriage (before 10 weeks of pregnancy) and Factor V Leiden and G20210A prothrombin mutations. A prospective study...
  75. Mann K, Kalafatis M. Factor V: a combination of Dr Jekyll and Mr Hyde. Blood. 2003;101:20-30 pubmed
  76. Prochazka M, Krcova V, Kudela M, Slavik L. [Occurrence of gene mutations in factor V Leiden, prothrombin and methylenetetrahydrofolate reductase in patients with pre-eclampsia]. Ceska Gynekol. 2003;68:162-6 pubmed
    ..The prevalence of APC resistance was statistically higher in preeclamptic patients compared to the control group. ..
  77. Hudson M, Herr A, Rauch J, Neville C, Chang E, Ibrahim R, et al. The presence of multiple prothrombotic risk factors is associated with a higher risk of thrombosis in individuals with anticardiolipin antibodies. J Rheumatol. 2003;30:2385-91 pubmed
    ..46 per each additional prothrombotic risk factor (95% confidence interval: 1.003-2.134). In individuals with positive aCL-IgG, we observed an association between the number of prothrombotic risk factors and history of thrombotic events. ..
  78. Volzke H, Kleine V, Robinson D, Grimm R, Hertwig S, Schwahn C, et al. Renin-angiotensin system and haemostasis gene polymorphisms and outcome after coronary artery bypass graft surgery. Int J Cardiol. 2005;98:133-9 pubmed
    ..235 M/T, angiotensin II type 1 receptor 1166 A/C) or the clotting system (glycoprotein IIIa PlA1/PlA2 and factor V Leiden 1691 G/A) are associated with the outcome after coronary artery bypass grafting...
  79. Gerhardt A, Goecke T, Beckmann M, Wagner K, Tutschek B, Willers R, et al. The G20210A prothrombin-gene mutation and the plasminogen activator inhibitor (PAI-1) 5G/5G genotype are associated with early onset of severe preeclampsia. J Thromb Haemost. 2005;3:686-91 pubmed
    ..design, there was no significant risk association of the hereditary risk factors with severe preeclampsia [factor V Leiden, odds ratio (OR) 0.9, 95% confidence interval (CI) 0.4, 2.2; prothrombin mutation, OR 1.9, 95% CI 0.5, 7...
  80. Almawi W, Tamim H, Kreidy R, Timson G, Rahal E, Nabulsi M, et al. A case control study on the contribution of factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations to the genetic susceptibility of deep venous thrombosis. J Thromb Thrombolysis. 2005;19:189-96 pubmed
    Insofar as the inherited prothrombotic single nucleotide polymorphisms (SNPs) factor V G1691A (FV-Leiden), prothrombin (PRT) G20210A, and methylenetetrahydrofolate reductase (MTHFR), C677T are inherited risk factors of venous ..
  81. Dizon Townson D, Miller C, Sibai B, Spong C, Thom E, Wendel G, et al. The relationship of the factor V Leiden mutation and pregnancy outcomes for mother and fetus. Obstet Gynecol. 2005;106:517-24 pubmed
    We sought to estimate the frequency of pregnancy-related thromboembolic events among carriers of the factor V Leiden (FVL) mutation without a personal history of thromboembolism, and to evaluate the impact of maternal and fetal FVL ..
  82. Mozsik G, Rumi G, Dömötör A, Figler M, Gasztonyi B, Papp E, et al. Involvement of serum retinoids and Leiden mutation in patients with esophageal, gastric, liver, pancreatic, and colorectal cancers in Hungary. World J Gastroenterol. 2005;11:7646-50 pubmed
  83. Smith N, Hindorff L, Heckbert S, Lemaitre R, Marciante K, Rice K, et al. Association of genetic variations with nonfatal venous thrombosis in postmenopausal women. JAMA. 2007;297:489-98 pubmed
    ..Replication of these novel associations in other populations is necessary to corroborate these findings and identify which genetic factors may influence VT risk in postmenopausal women. ..
  84. Segers K, Dahlback B, Nicolaes G. Coagulation factor V and thrombophilia: background and mechanisms. Thromb Haemost. 2007;98:530-42 pubmed
    Human coagulation factor V (FV) is an essential coagulation protein with functions in both the pro- and anticoagulant pathways. Failure to express and control FV functions can either lead to bleeding, or to thromboembolic disease...
  85. Karakantza M, Androutsopoulos G, Mougiou A, Sakellaropoulos G, Kourounis G, Decavalas G. Inheritance and perinatal consequences of inherited thrombophilia in Greece. Int J Gynaecol Obstet. 2008;100:124-9 pubmed
    ..To investigate the impact of inherited thrombophilic factors on the gestational outcome of unselected pregnant women...
  86. Chan W, Lee C, Kwong Y, Lam C, Liang R. A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood. 1998;91:1135-9 pubmed
    We have analyzed 83 unrelated Hong Kong Chinese for the presence of genetic variants of factor V gene. Forty-three of them had a history of deep vein thrombosis...
  87. Celik S, Ovali E, Baykan M, Ucar F, Erdol C, Durmus I, et al. Factor V Leiden and its relation to left ventricular thrombus in acute myocardial infarction. Acta Cardiol. 2001;56:1-6 pubmed
    The genetic defect of coagulation factor V, known as factor V Leiden, produces a resistance to degradation by activated protein C (APC) and increases the risk of venous thrombosis...
  88. Burzotta F, Paciaroni K, De Stefano V, Chiusolo P, Manzoli A, Casorelli I, et al. Increased prevalence of the G20210A prothrombin gene variant in acute coronary syndromes without metabolic or acquired risk factors or with limited extent of disease. Eur Heart J. 2002;23:26-30 pubmed
    To investigate the prevalence of the G20210A prothrombin and G1691A factor V gene variants in patients with acute coronary syndrome stratified according to risk factor profile and to extent of coronary disease, in comparison with matched ..
  89. Norstrøm E, Thorelli E, Dahlback B. Functional characterization of recombinant FV Hong Kong and FV Cambridge. Blood. 2002;100:524-30 pubmed
    In factor V (FV) Cambridge (Arg306Thr) and Hong Kong (Arg306Gly), a cleavage site for anticoagulant activated protein C (APC), which is crucial for the inactivation of FVa, is lost...
  90. Finan R, Tamim H, Ameen G, Sharida H, Rashid M, Almawi W. Prevalence of factor V G1691A (factor V-Leiden) and prothrombin G20210A gene mutations in a recurrent miscarriage population. Am J Hematol. 2002;71:300-5 pubmed
    b>Factor V G1691A (FV-Leiden) and prothrombin G20210A mutations are major inherited risk factors for venous thrombosis...
  91. Donahue B, Gailani D, Higgins M, Drinkwater D, George A. Factor V Leiden protects against blood loss and transfusion after cardiac surgery. Circulation. 2003;107:1003-8 pubmed
    ..Because blood conservation is a pressing issue in cardiac surgery, we tested the hypothesis that factor V Leiden (FVL), a common coagulation factor polymorphism, may protect against blood loss and transfusion in patients ..
  92. Singh L, Bukys M, Beck D, Kalafatis M. Amino acids Glu323, Tyr324, Glu330, and Val331 of factor Va heavy chain are essential for expression of cofactor activity. J Biol Chem. 2003;278:28335-45 pubmed
    ..Our data demonstrate that amino acid residues Glu323, Tyr324, Glu330, and Val331 of factor Va heavy chain are critical for expression of factor Va cofactor activity. ..