Gene: F5

Alternate names for this Gene: FVL|PCCF|RPRGL1|THPH2

Gene Summary: This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance.

Gene is located in Chromosome: 1

Location in Chromosome : 1q24.2

Description of this Gene: coagulation factor V

Type of Gene: protein-coding

rs6013 in F5 gene and Activated Partial Thromboplastin Time measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 22703881 2012 Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.

rs6009 in F5 gene and Activated Protein C Resistance PMID 23188048 2013 A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array.

rs10800453 in F5 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs6025 in F5 gene and Cerebrovascular accident PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

rs6025 in F5 gene and Deep Vein Thrombosis PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

rs118203907 in F5 gene and Hereditary Factor V Deficiency PMID 20735394 2010 A novel compensating mechanism for homozygous coagulation factor V deficiency suggested by enhanced activated partial thromboplastin time after reconstitution with normal factor V.

PMID 21150787 2011 Recommendations from the EGAPP Working Group: routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members.

PMID 12816860 2003 Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations.

PMID 11418372 2001 A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population.

PMID 10942390 2000 Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family.

PMID 16476093 2006 A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene.

PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

PMID 8164741 1994 Mutation in blood coagulation factor V associated with resistance to activated protein C.

PMID 7911872 1994 Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V.

PMID 7910348 1994 Activated protein C resistance caused by Arg506Gln mutation in factor Va.

PMID 22044617 2012 Genetic modulation of the FV(Leiden)/normal FV ratio and risk of venous thrombosis in factor V Leiden heterozygotes.

PMID 9694743 1998 A novel factor V null mutation detected in a thrombophilic patient with pseudo-homozygous APC resistance and in an asymptomatic unrelated subject.

rs9332637 in F5 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs6703865 in F5 gene and Hippocampal atrophy PMID 22745009 2012 Multiple loci influencing hippocampal degeneration identified by genome scan.

rs6025 in F5 gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs6025 in F5 gene and Ischemic stroke PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

rs6025 in F5 gene and Peripheral Arterial Diseases PMID 31285632 2019 Genome-wide association study of peripheral artery disease in the Million Veteran Program.

rs2420371 in F5 gene and Protein C antigen measurement PMID 22443383 2012 Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.

rs2420371 in F5 gene and Protein C measurement PMID 22443383 2012 Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.

rs6025 in F5 gene and Pulmonary Embolism PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

rs9332637 in F5 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs9332492 in F5 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1557570 in F5 gene and Stem Cell Factor Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs118203906 in F5 gene and THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) PMID 20027064 2010 The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

PMID 21116184 2011 Factor V Leiden thrombophilia.

PMID 23900608 2013 Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls.

rs1018827 in F5 gene and Venous Thromboembolism PMID 22672568 2012 A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.

PMID 21980494 2011 Genetics of venous thrombosis: insights from a new genome wide association study.

PMID 19278955 2009 Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.

PMID 25772935 2015 Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.

PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

PMID 28373160 2017 Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor.

PMID 22672568 2012 However, F5 was the main signal on 1q24.2 as only ABO SNPs remained significantly associated with VTE after adjusting for F5 rs6025.

PMID 31676865 2019 We developed a genome-wide polygenic risk score for venous thromboembolism that identifies 5% of the population at an equivalent incident venous thromboembolism risk to carriers of the established factor V Leiden p.R506Q and prothrombin G20210A mutations.

PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

PMID 23650146 2013 A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.

rs1018827 in F5 gene and Venous Thrombosis PMID 22675575 2012 Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis.