|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
BEFREE |
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.
|
31676865 |
2019 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our findings suggest that the risk of VTE by FHMI is not explained by rs8176719 (ABO), rs6025 (F5), rs1799963 (F2), rs2066865 (FGG), and rs2036914 (F11).
|
31124268 |
2019 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
GWASCAT |
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.
|
31676865 |
2019 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
GWASCAT |
Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.
|
31420334 |
2019 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
BEFREE |
We aimed at establishing a real-time PCR protocol for the detection of the venous thromboembolism associated mutations factor V Leiden (F5 c.1691G>A; p.R506Q) and prothrombin (F2) c.20210G>A from whole blood, without DNA extraction.
|
30439355 |
2019 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
GWASCAT |
Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor.
|
28373160 |
2017 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
BEFREE |
The risk of cancer-related venous thromboembolism was 16.7-fold (95% CI 9.9-28.0) higher in subjects heterozygous for rs6025 compared with non-carriers of this variant without active cancer.
|
27479824 |
2016 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
|
26908601 |
2016 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
BEFREE |
While Factor V Leiden (F5 rs6025 A allele) is a known venous thromboembolism (VTE) risk factor, VTE risk among heterozygous vs. homozygous carriers is uncertain.
|
26970916 |
2016 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
BEFREE |
In conclusion, F5 rs6025 and F11 rs2289252 contributed to the risk of recurrent VTE and the combination is of potential clinical relevance for risk prediction.
|
26423325 |
2016 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
GWASCAT |
Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.
|
25772935 |
2015 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
BEFREE |
Factor V Leiden (FVL or rs6025</span>) and prothrombin gene G20210A (PT or rs1799963) are the genetic variants currently tested for VTE risk assessment.
|
25341889 |
2014 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
BEFREE |
Factor V leiden G1691A/R506Q (FVL), prothrombin G20210A (FII) and methylenetetrahydrofolate reductase (MTHFR) C677T are related genetic risk factors for venous thromboembolism.
|
22528331 |
2012 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
GWASDB |
However, F5 was the main signal on 1q24.2 as only ABO SNPs remained significantly associated with VTE after adjusting for F5 rs6025.
|
22672568 |
2012 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
BEFREE |
However, F5 was the main signal on 1q24.2 as only ABO SNPs remained significantly associated with VTE after adjusting for F5 rs6025.
|
22672568 |
2012 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
GWASCAT |
However, F5 was the main signal on 1q24.2 as only ABO SNPs remained significantly associated with VTE after adjusting for F5 rs6025.
|
22672568 |
2012 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
GWASDB |
Genetics of venous thrombosis: insights from a new genome wide association study.
|
21980494 |
2011 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
BEFREE |
A single factor V gene G-A mutation (Arg506Gln) underlying activated protein C (APC) resistance is a common risk factor for venous thromboembolism.
|
9705241 |
1998 |
|
Venous Thromboembolism
|
|
0.900 |
GeneticVariation
|
BEFREE |
The risk of recurrent venous thromboembolism in patients with an Arg506-->Gln mutation in the gene for factor V (factor V Leiden).
|
9010145 |
1997 |
|
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
|
|
0.810 |
SusceptibilityMutation
|
CLINVAR |
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.
|
23900608 |
2013 |
|
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
|
|
0.810 |
SusceptibilityMutation
|
CLINVAR |
Factor V Leiden thrombophilia.
|
21116184 |
2011 |
|
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
|
|
0.810 |
GeneticVariation
|
BEFREE |
More than half of all patients with familial or recurring venous thrombosis have hereditary resistance to activated protein C (HRAPC) as the result of specific missense mutation in the gene for coagulation factor V. Because the mutant factor Va (with an Arg to Gln substitution at codon 506) cannot be cleaved and inactivated by activated protein C, carriers of this mutation are at significantly increased risk of venous thrombosis.
|
7493138 |
1995 |
|
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Activated Protein C Resistance
|
|
0.800 |
GeneticVariation
|
BEFREE |
To compare the accuracy and reliability of phenotypic activated protein C resistance (aPC-R) assays with a genotypic assay for the factor V Leiden F5 p.R506Q (FVL) mutation.
|
30423028 |
2019 |