Genomes and Genes
Gene Symbol: F5
Description: coagulation factor V
Alias: Ac2-120, coagulation factor V, coagulation factor V (proaccelerin, labile factor)
- Owen C, Bowie E. Rat coagulation factors V, VIII, XI, and XII: vitamin K dependent. Haemostasis. 1978;7:189-201 pubmed..The isolated rat liver apparently does not generate factor VIII. ..
- Emiroglu O, Durdu S, Egin Y, Akar A, Alakoç Y, Zaim C, et al. Thrombotic gene polymorphisms and postoperative outcome after coronary artery bypass graft surgery. J Cardiothorac Surg. 2011;6:120 pubmed publisher..007). FVL and PT G20210A genotypes had a higher prevalence of totally occluded vessels potentially as a result of atherothrombotic events. However, none of the genotypes investigated were independently associated with mortality. ..
- Castoldi E, Rosing J. Factor V Leiden: a disorder of factor V anticoagulant function. Curr Opin Hematol. 2004;11:176-81 pubmed..Elucidation of the molecular mechanism of the anticoagulant function of factor V may provide novel targets for the design of antithrombotic drugs. ..
- Verity D, Vaughan R, Madanat W, Kondeatis E, Zureikat H, Fayyad F, et al. Factor V Leiden mutation is associated with ocular involvement in Behçet disease. Am J Ophthalmol. 1999;128:352-6 pubmed..These data suggest that FV Leiden may be an additional risk factor for the development of ocular disease and, in particular, retinal vaso-occlusion, and it may contribute to the poor visual outcome in these patients. ..
- Klai S, Fekih Mrissa N, Ghachem A, Baffoun A, Nciri B, Hmida J, et al. Thrombophilic disorders: a real threat to patients with end-stage renal disease on hemodialysis and at the time of renal transplantation. Blood Coagul Fibrinolysis. 2012;23:406-10 pubmed publisher..These results will serve as a basis for anticoagulant prophylaxis aimed at preventing kidney rejection and renal allograft thrombosis. ..
- Xu Z, Westrick R, Shen Y, Eitzman D. Pulmonary fibrosis is increased in mice carrying the factor V Leiden mutation following bleomycin injury. Thromb Haemost. 2001;85:441-4 pubmed..01 for both comparisons). These data demonstrate a strong relationship between aPC resistance and the pulmonary fibrosis that occurs following inflammatory lung injury. ..
- Coen D, Zadro R, Honovic L, Banfic L, Stavljenic 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;42:488-92 pubmed..High frequency of association between both mutations supports the need to perform simultaneous genetic analyses of factor V Leiden and PT20210A in all VTE patients. ..
- Nobukata H, Katsuki Y, Ishikawa T, Inokuma M, Shibutani Y. Effect of dienogest on bleeding time, coagulation, fibrinolysis, and platelet aggregation in female rats. Toxicol Lett. 1999;104:93-101 pubmed..In comparison with MPA and danazol, dienogest may induce a relatively high incidence of bleeding in patients with endometriosis partially because of its minimal effect on hemostasis. ..
- Kerschen E, Hernandez I, Zogg M, Maas M, Weiler H. Survival advantage of heterozygous factor V Leiden carriers in murine sepsis. J Thromb Haemost. 2015;13:1073-80 pubmed publisherThe high allelic frequency of the prothrombotic Leiden polymorphism in human blood coagulation factor V (FV) has been speculated to reflect positive selection during evolution...
- Cui J, O Shea K, Purkayastha A, Saunders T, Ginsburg D. Fatal haemorrhage and incomplete block to embryogenesis in mice lacking coagulation factor V. Nature. 1996;384:66-8 pubmedb>Coagulation factor V is a critical cofactor for the activation of prothrombin to thrombin, the penultimate step in the generation of a fibrin blood clot...
- Sun H, Yang T, Yang A, Wang X, Ginsburg D. The murine platelet and plasma factor V pools are biosynthetically distinct and sufficient for minimal hemostasis. Blood. 2003;102:2856-61 pubmedb>Coagulation factor V (FV) is a central regulator of the coagulation cascade. Circulating FV is found in plasma and within platelet alpha granules. The specific functions of these distinct FV pools are uncertain...
- Weischer M, Juul K, Zacho J, Jensen G, Steffensen R, Schroeder T, et al. Prothrombin and risk of venous thromboembolism, ischemic heart disease and ischemic cerebrovascular disease in the general population. Atherosclerosis. 2010;208:480-3 pubmed publisher..0(1.0-3.8) for MI, 1.4(0.7-3.1) for ICVD, and 2.1(0.8-5.4) for IS. Prothrombin G20210A heterozygosity alone and in combination with Factor V Leiden R506Q heterozygosity predicts 1.5 and 6.0 fold risk of IHD compared to non-carriers. ..
- Juul K, Tybjaerg Hansen A, Schnohr P, Nordestgaard B. Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Ann Intern Med. 2004;140:330-7 pubmed..The simultaneous presence of smoking, obesity, and old age resulted in absolute 10-year thromboembolic risks of 10% in heterozygotes and 51% in homozygotes. ..
- Tripathi G, Sankhwar S, Sharma R, Baburaj V, Agrawal S. Role of thrombotic risk factors in end-stage renal disease. Clin Appl Thromb Hemost. 2010;16:132-40 pubmed publisher..001). The carrier of FVL, TT genotype of C677T, and CC genotype of A1298C polymorphisms may act as risk factors for ESRD. ..
- Gorur K, Tuncer U, Eskandari G, Ozcan C, Unal M, Ozsahinoglu C. The role of factor V Leiden and prothrombin G20210A mutations in sudden sensorineural hearing loss. Otol Neurotol. 2005;26:599-601 pubmed..A significant association between factor V Leiden mutation and idiopathic SSHL could be shown in this study. There was no correlation, however, between the occurrence of idiopathic SSHL and prothrombin mutation. ..
- Cadoni G, Scipione S, Rocca B, Agostino S, La Greca C, Bonvissuto D, et al. Lack of association between inherited thrombophilic risk factors and idiopathic sudden sensorineural hearing loss in Italian patients. Ann Otol Rhinol Laryngol. 2006;115:195-200 pubmed..Further large prospective studies are needed to provide currently lacking information and to improve our knowledge in the field before we recommend the determination of genetic polymorphism in SSNHL as routine practice. ..
- van Wijk R, Montefusco M, Duga S, Asselta R, van Solinge W, Malcovati M, et al. Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency. Br J Haematol. 2001;114:871-4 pubmed..predicting the synthesis of a truncated factor V (FV) molecule was identified in exon 13 of the human coagulation factor V gene in two unrelated Italian probands with undetectable plasma levels of FV antigen and activity...
- Tinholt M, Viken M, Dahm A, Vollan H, Sahlberg K, Garred O, et al. Increased coagulation activity and genetic polymorphisms in the F5, F10 and EPCR genes are associated with breast cancer: a case-control study. BMC Cancer. 2014;14:845 pubmed publisher..366 breast cancer patients and 307 controls were genotyped for SNPs (nâ€‰=â€‰41) in the F2, F3 (TF), F5, F7, F10, TFPI and EPCR genes, and assayed for plasma coagulation markers (thrombin generation, activated protein C (..
- Yang T, Pipe S, Yang A, Ginsburg D. Biosynthetic origin and functional significance of murine platelet factor V. Blood. 2003;102:2851-5 pubmed
- Capaccio P, Ottaviani F, Cuccarini V, Bottero A, Schindler A, Cesana B, et al. Genetic and acquired prothrombotic risk factors and sudden hearing loss. Laryngoscope. 2007;117:547-51 pubmed..A number of inherited prothrombotic risk factors and their related genetic alterations have recently been correlated with vascular disorders...
- Sundquist K, Wang X, Svensson P, Sundquist J, Hedelius A, Larsson LÃ¶nn S, et al. Plasminogen activator inhibitor-1 4G/5G polymorphism, factor V Leiden, prothrombin mutations and the risk of VTE recurrence. Thromb Haemost. 2015;114:1156-64 pubmed publisher..In conclusion, FVL has a modifying effect on PAI-1 polymorphism in relation to risk of VTE recurrence. The role of PAI-1 polymorphism as a risk factor of recurrent VTE may be FVL dependent. ..
- Konishi N, Hiroe K, Kawamura M. Differential effects of TAK-442, a novel orally active direct factor Xa inhibitor, and ximelagatran, a thrombin inhibitor, on factor V-mediated feedback on coagulation cascade and bleeding. Thromb Haemost. 2010;104:504-13 pubmed publisher..These results suggest that the differential effects of the two agents on FV-mediated amplification of thrombin generation may underlie the observation of a wider therapeutic window for TAK-442 than for ximelagatran. ..
- Silingardi M, Salvarani C, Boiardi L, Accardo P, Iorio A, Olivieri I, et al. Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behçet's disease and deep vein thrombosis. Arthritis Rheum. 2004;51:177-83 pubmed..However, a prothrombin gene G20210A mutation may influence the development and severity of ocular involvement in BD. ..
- Laudes I, Chu J, Sikranth S, Huber Lang M, Guo R, Riedemann N, et al. Anti-c5a ameliorates coagulation/fibrinolytic protein changes in a rat model of sepsis. Am J Pathol. 2002;160:1867-75 pubmed..Most of these parameters were reversed in CLP rats that had been treated with anti-C5a. Production of C5a during sepsis may directly or indirectly cause hemostatic defects that can be reduced by blockade of C5a. ..
- Mello G, Parretti E, Marozio L, Pizzi C, Lojacono A, Frusca T, et al. Thrombophilia is significantly associated with severe preeclampsia: results of a large-scale, case-controlled study. Hypertension. 2005;46:1270-4 pubmed..Thrombophilia also augments the risk of life-threatening maternal complications and adverse perinatal outcomes in preeclamptic patients. ..
- Amália P, Possa M, Augusto M, Francisca L. Quercetin prevents oxidative stress in cirrhotic rats. Dig Dis Sci. 2007;52:2616-21 pubmed..Quercetin (50 mg/kg/day) successfully attenuated these effects of CCl(4). We conclude that quercetin has beneficial effects on liver fibrosis in rats by enhancing antioxidant enzyme activity and decreasing the pro-oxidant effect. ..
- Haller M, Valladares A, Rosenbloom A. Arterial thrombosis resulting in amputation in a child with poorly controlled type 1 diabetes and heterozygous Factor V Leiden mutation. Pediatr Diabetes. 2006;7:229-31 pubmed..This report emphasizes the need to test for thrombophilic defects in children with thrombosis or with a family history of thrombosis. Good metabolic control is especially important in children with T1DM and known thrombophilic defects. ..
- Duga S, Asselta R, Tenchini M. Coagulation factor V. Int J Biochem Cell Biol. 2004;36:1393-9 pubmed..This review focuses on the structure, function (procoagulant and anticoagulant), regulation (activation and inactivation) of FV as well as on the genetic defects associated with mutations in the FV gene. ..
- 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..Our data suggest that factor V Leiden and prothrombin 20210A do not play a major role in patients with retinal artery occlusion. ..
- Mazzorana M, Cornillon B, Baffet G, Hubert N, Belleville J, Eloy R, et al. Biosynthesis of factor V by normal adult rat hepatocytes. Thromb Res. 1989;54:655-75 pubmedThe synthesis of coagulation factor V was investigated in isolated rat hepatocytes maintained in long-term primary culture. Two culture conditions were compared...
- Arsene S, Delahousse B, Regina S, Le Lez M, Pisella P, Gruel Y. Increased prevalence of factor V Leiden in patients with retinal vein occlusion and under 60 years of age. Thromb Haemost. 2005;94:101-6 pubmed..027). In conclusion, this study suggests a role of FV Leiden in the occurrence of RVO in patients younger than 60 years who exhibit fewer acquired vascular risk factors than in older patients. ..
- Gowda M, Zucker M, Vacek J, Carriger W, Van Laeys D, Rachel J, et al. Incidence of factor V Leiden in patients with acute myocardial infarction. J Thromb Thrombolysis. 2000;9:43-5 pubmedThe 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 thromboembolism...
- Ivancic M, Irving A, Jonakin K, Dove W, Sussman M. The concentrations of EGFR, LRG1, ITIH4, and F5 in serum correlate with the number of colonic adenomas in ApcPirc/+ rats. Cancer Prev Res (Phila). 2014;7:1160-9 pubmed publisher..EGFR, LRG1, ITIH4, and F5 displayed the most robust tumor-associated protein expression changes over time...
- Smith S, Travers R, Morrissey J. How it all starts: Initiation of the clotting cascade. Crit Rev Biochem Mol Biol. 2015;50:326-36 pubmed publisher..This review focuses on how the initiation phase of the blood clotting cascade is regulated in both pathways, with a discussion of the contributions of these pathways to hemostasis versus thrombosis. ..
- Ludemann P, Nabavi D, Junker R, Wolff E, Papke K, Buchner H, et al. Factor V Leiden mutation is a risk factor for cerebral venous thrombosis: a case-control study of 55 patients. Stroke. 1998;29:2507-10 pubmed..Coexisting risk factors are usually involved in the initiation of CVT. Patients with the FVL mutation are at an increased risk for recurrent venous thrombosis. ..
- Engelmann M, Kolbe T, Faul C, Steinbeck G. Hypereosinophilic syndrome associated with heterozygous factor V gene mutation: an unusual combination resulting in an acute coronary syndrome and recurrent cerebral stroke-a case report. Angiology. 2004;55:221-5 pubmed..In patients with hypereosinophilic syndrome and recurrent thromboembolic episodes, other thrombophilic diseases, including factor V mutations, should be considered, and long-term coagulation should be contemplated. ..
- Hefler L, Jirecek S, Heim K, Grimm C, Antensteiner G, Zeillinger R, et al. Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study. J Soc Gynecol Investig. 2004;11:42-4 pubmed..In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition. ..
- Wong C, Szydlo R, Gibbs S, Laffan M. Hereditary and acquired thrombotic risk factors for chronic thromboembolic pulmonary hypertension. Blood Coagul Fibrinolysis. 2010;21:201-6 pubmed publisher..The results indicate different pathophysiologies for CTEPH and non-CTEPH. The elevation of FVIII and increased incidence of FVL gene polymorphisms in the CTEPH group support a primary role of thrombosis in aetiology. ..
- Norris L. Blood coagulation. Best Pract Res Clin Obstet Gynaecol. 2003;17:369-83 pubmed..Both genetic and environmental factors can influence the activation of coagulation and may predispose affected individuals to thrombosis. ..
- Juul K, Tybjaerg Hansen A, Mortensen J, Lange P, Vestbo J, Nordestgaard B. Factor V leiden homozygosity, dyspnea, and reduced pulmonary function. Arch Intern Med. 2005;165:2032-6 pubmed..We demonstrate a previously unrecognized clinical presentation of factor V Leiden homozygosity with severe dyspnea and decreased pulmonary function. ..
- Siguret V, Emmerich J, Belleville T, Golmard J, Mazoyer E, Gouin Thibault I, et al. Prevalence of Hereditary Thrombophilia in Patients Older Than 75 Years With Venous Thromboembolism Referred for Thrombophilia Screening. J Gerontol A Biol Sci Med Sci. 2015;70:977-81 pubmed publisher..05). Our study provides new data on genetic risk factors for VTE in the very elderly people. Whether identification of hereditary thrombophilia in elderly patients may influence patient's management in this age group remains unanswered. ..
- Yamaguchi K, Majima M, Katori M, Kakita A, Sugimoto K. Preferential consumption of coagulation factors I, V, and VIII in rat endotoxemia. Shock. 2000;14:535-43 pubmed..The extrinsic coagulation pathway was dominantly activated, whereas the intrinsic coagulation pathway, including plasma kallikrein-kinin system, played less important role in the ETX-induced consumption coagulopathy in rat. ..
- Akman B, Afsar B, Atac F, Ibis A, Arat Z, Sezer S, et al. Predictors of vascular access thrombosis among patients on the cadaveric renal transplantation waiting list. Transplant Proc. 2006;38:413-5 pubmed
- Saito H, Kitamoto M, Kato K, Liu N, Kitamura H, Uemura K, et al. Tissue factor and factor v involvement in rat peritoneal fibrosis. Perit Dial Int. 2009;29:340-51 pubmed
- Ekmekci Y, Keven K, Akar N, Egin Y, Sengul S, Kutlay S, et al. Thrombophilia and avascular necrosis of femoral head in kidney allograft recipients. Nephrol Dial Transplant. 2006;21:3555-8 pubmed..9%) in the control group were identified (P = 0.004). Thrombophilia seems to be an important risk factor for development of AVN. More studies are needed to clarify the role of factor V G1691A and prothrombin G20210A mutation for AVN. ..
- Middendorf K, Göhring P, Huehns T, Seidel D, Steinbeck G, Nikol S. Prevalence of resistance against activated protein C resulting from factor V Leiden is significantly increased in myocardial infarction: investigation of 507 patients with myocardial infarction. Am Heart J. 2004;147:897-904 pubmedA point mutation in the gene encoding coagulation factor V is a cause of resistance against activated protein C. The presence of factor V Leiden is linked to 50% of congenital defects causing venous thrombosis...
- Benfield T, Dahl M, Nordestgaard B, Tybjaerg Hansen A. Influence of the factor V Leiden mutation on infectious disease susceptibility and outcome: a population-based study. J Infect Dis. 2005;192:1851-7 pubmedThe effect of the coagulation factor V Leiden mutation on infectious disease susceptibility and outcome is controversial. We genotyped 9253 individuals from the Copenhagen City Heart Study for the factor V Leiden mutation...
- Cui J, Eitzman D, Westrick R, Christie P, Xu Z, Yang A, et al. Spontaneous thrombosis in mice carrying the factor V Leiden mutation. Blood. 2000;96:4222-6 pubmedA polymorphism in coagulation factor V, factor V Leiden (FVL), is the major known genetic risk factor for thrombosis in humans. Approximately 10% of mutation carriers experience clinically significant thrombosis in their lifetime...