|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
We compared the incidence of cancer diagnosis during follow-up among cohort women positive for antiphospholipid antibodies (n=517), cohort women carrying the F5 rs6025 or F2 rs1799963 polymorphism (n=279) and cohort women with negative thrombophilia screening results (n=796).
|
31101755 |
2020 |
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
We compared the incidence of cancer diagnosis during follow-up among cohort women positive for antiphospholipid antibodies (n=517), cohort women carrying the F5 rs6025 or F2 rs1799963 polymorphism (n=279) and cohort women with negative thrombophilia screening results (n=796).
|
31101755 |
2020 |
|
Myocardial Infarction
|
|
0.010 |
GeneticVariation
|
BEFREE |
Prothrombin G20210A (rs1799963) polymorphism increases myocardial infarction risk in an age-related manner: A systematic review and meta-analysis.
|
29051591 |
2017 |
|
Fetal Growth Retardation
|
|
0.010 |
GeneticVariation
|
BEFREE |
A combination of alleles G of rs1799963, A of rs6046, and G of rs1800790 (OR = 0.31) reduces the risk of FGR.
|
28544373 |
2017 |
|
Cardiovascular Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
A total of nine gene variants/polymorphisms - F5 (Leiden - R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (V34L, rs5985), MTHFR (677C > T - A222V, rs1801133), MTHFR (1298A > C - E429A, rs1801131), FGB (-455G > A -c.-463G > A; rs1800790), SERPINE1 (PAI14G/5G - rs1799889), ACE (ACE I/D, rs1799752), ITGB3 (GPIIIa L33P, rs5918) and the APOE E2/E3/E4 alleles (rs7412, rs429358) - were genotyped in 200 newly diagnosed ischemic stroke (IS) patients, 165 patients with ischemic coronary heart disease (CHD) and 159 controls with no cerebroor cardiovascular disease (non-CVD).
|
27629735 |
2016 |
|
Factor V Leiden mutation
|
|
0.010 |
GeneticVariation
|
BEFREE |
To assess Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), and MTHFR A1298C (rs1801131) gene mutations as risk factors in the development of retinopathy of prematurity (ROP).
|
27018927 |
2016 |
|
Retinopathy of Prematurity
|
|
0.010 |
GeneticVariation
|
BEFREE |
To assess Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), and MTHFR A1298C (rs1801131) gene mutations as risk factors in the development of retinopathy of prematurity (ROP).
|
27018927 |
2016 |
|
Juvenile Myoclonic Epilepsy
|
|
0.010 |
GeneticVariation
|
BEFREE |
These results present no evidence for an association of rs1799963 with JME.
|
25992517 |
2015 |
|
Severe hereditary factor VIII deficiency disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The present cohort study was performed to investigate the impact of the factor 5 rs6025 [F5] and the factor 2 rs1799963 [F2] mutations on high-titer inhibitor development [HRI] in patients with severe/moderate-severe hemophilia A [HA].
|
24485400 |
2014 |
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The prothrombotic polymorphisms factor V Leiden (rs6025) and prothrombin G20210A (rs1799963) were not associated with breast cancer.
|
25407022 |
2014 |
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
The prothrombotic polymorphisms factor V Leiden (rs6025) and prothrombin G20210A (rs1799963) were not associated with breast cancer.
|
25407022 |
2014 |
|
Hemophilia A
|
|
0.010 |
GeneticVariation
|
BEFREE |
Influence of factor 5 rs6025 and factor 2 rs1799963 mutation on inhibitor development in patients with hemophilia A--an Israeli-German multicenter database study.
|
24485400 |
2014 |
|
Protein S Deficiency
|
|
0.010 |
GeneticVariation
|
BEFREE |
We investigated the prevalence of the factor V Leiden (F5 rs6025) and prothrombin gene G20210A (F2 rs1799963) polymorphisms, and antithrombin, protein C and protein S deficiencies, and their association with intrauterine fetal death.
|
22198364 |
2011 |
|
Lupus Erythematosus, Systemic
|
|
0.010 |
GeneticVariation
|
BEFREE |
While the rs1799963 A allele was almost absent in African Americans, it was present at ~2% frequency in Caucasian Americans and showed no significant association with SLE.
|
21239755 |
2011 |
|
Thrombophilia
|
|
0.040 |
GeneticVariation
|
BEFREE |
We compared the incidence of cancer diagnosis during follow-up among cohort women positive for antiphospholipid antibodies (n=517), cohort women carrying the F5 rs6025 or F2 rs1799963 polymorphism (n=279) and cohort women with negative thrombophilia screening results (n=796).
|
31101755 |
2020 |
|
Thrombophilia
|
|
0.040 |
GeneticVariation
|
BEFREE |
Apart from underlying medical conditions, recently reported systematic reviews on pediatric VTE (70% provoked) have shown significant associations between thrombosis and presence of protein C-, protein S- and antithrombin deficiency, factor 5 (F5: rs6025), factor 2 (F2: rs1799963), even more pronounced when combined inherited thrombophilias [IT] were involved.
|
28010922 |
2017 |
|
Thrombophilia
|
|
0.040 |
GeneticVariation
|
BEFREE |
We compared the frequencies of complications during a new pregnancy attempt among women carrying the F5 rs6025 or F2 rs1799963 polymorphism (n = 279; low-molecular-weight heparin [LMWH] treatment during pregnancy only in case of prior fetal death), and women with negative thrombophilia screening results as control women (n = 796; no treatment).
|
24200686 |
2014 |
|
Thrombophilia
|
|
0.040 |
GeneticVariation
|
BEFREE |
We compared the frequencies of thrombotic events among women positive for antiphospholipid Abs (n = 517), women carrying the F5 6025 or F2 rs1799963 polymorphism (n = 279), and women with negative thrombophilia screening results (n = 796).
|
22147897 |
2012 |
|
Deep Vein Thrombosis
|
|
0.700 |
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 |
|
Pulmonary Embolism
|
|
0.700 |
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 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice.
|
23429074 |
2013 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability.
|
21349849 |
2011 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells.
|
21243428 |
2011 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
HFE polymorphisms affect cellular glutamate regulation.
|
19560233 |
2011 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.
|
19554541 |
2009 |