SERPINE1, serpin family E member 1, 5054

N. diseases: 770; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE The prevalence of the following genetic variants was determined: F5 c.1601G>A (factor V Leiden), F2 c.*97G>A (factor II or prothrombin mutation), F13A1 (factor XIII) c.103G>T, MTHFR (methylenetetrahydrofolate reductase) c.665C>T and c.1286A>C, as well as PAI-1 (plasminogen activator inhibitor 1) c.-816A>G and c.-844G>A as markers of thrombophilia risk, and *2 and *3 alleles of CYP2C9 (cytochrome P450 2C9) and five variants of VKORC1 (vitamin K epoxide reductase complex subunit 1) as markers of warfarin pharmacogenetics. 31187948 2019
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE Polymorphism of MTHFR (677C > T and 1298A > C), PAI1 (-675 5G/4G and -844A > G), and F2 (20210G > A), and the F5 Leiden mutation, as well as biochemical parameters for hypercoagulability, were analysed. 31389788 2019
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker disease BEFREE We provided evidence of an underlying alteration of vascular network related to increased coagulation components, and fibrinolysis inhibitor levels in healthy women with history RPL; therefore, calibrated automated thrombography global assay and testing for FVIII and PAI-1 would be advisable in clinical practice to evaluate the hypercoagulable status in RPL women planning future pregnancy. 29135477 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker disease BEFREE This study is a prospective observational cohort study; Hypercoagulability and inflammatory biomarkers including:(1) Coagulation and fibrinolysis activation Markers (D-dimer, Fibrinogen, Antithrombin, plasminogen activator inhibitor 1 [PAI-1]);(2) Endothelium and platelet activation Markers (von Willebrand Factor [vWF], soluble P-selectin); and (3) Inflammation Markers (Tumor necrosis factor alpha [TNF-α], Interleukin-6 [IL-6]) were assayed on a group of 171 patients with hematological malignancies at time of diagnosis. 28823228 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE RESULTS In this study, we have observed statistically meaningful data (P<0.01) related to the relationship between RPL and thrombophilia-associated gene polymorphisms such as heterozygous factor V Leiden H1299R, heterozygous prothrombin G20210A, PAI-1 4G/5G, and PAI-1 4G/4G. 29932168 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker disease BEFREE The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome. 30334491 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE All participants underwent screening for thrombophilia-associated polymorphisms including factor V Leiden (FVL), prothrombin G20210A (PTG), factor V H1299 R (factor V HR2), factor XIII V34 L, β-fibrinogen-455 G>A, plasminogen activator inhibitor-1 4G/5G, human platelet antigen-1 a/b, methylene tetrahydrofolate reductase (MTHFR) C677 T, MTHFR A1298C, angiotensin-converting enzyme I/D, apolipoprotein B R3500Q, and apolipoprotein E (Apo E). 27729560 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker disease BEFREE A positive association between other inherited thrombophilias (homozygous 20210 prothrombin gene mutation and homozygous factor V Leiden) and IUGR of unknown cause was also found, P = .096, OR 6.106 (CI 95% 0.72-51.30), although it was not statistically significant (P = .096, OR = 6.106, CI 95% 0.72-51.30).Our results indicate that PAI-1 and MTHFR thrombophilias represent risk factors for IUGR of otherwise unidentified cause. 30313110 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE Normal pregnancy is a state of hypercoagulability with diminishing fibrinolytic activity, which is mainly caused by an increase of plasminogen activator inhibitor type 1 (PAI-1). 28758928 2017
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE Genetic variations of the serine proteinase inhibitor family E member 1 (SERPINE1) gene, which encodes plasminogen activator inhibitor 1, correlate with serum levels of its product and are associated with thrombophilia and coronary atherosclerosis. 28599907 2017
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker disease BEFREE PAI-1 4G/4G is a strong risk factor for venous thrombosis in Indian patients and should be included in laboratory testing panel of thrombophilia. 28561456 2017
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE The aim of this study was to estimate frequency of thrombophilia-associated genotypes (FII20210G > A, FV1691G > A, MTHFR677C > T and PAI-1 -675 4G/5G) in a group of 1631 Serbian women experiencing reproductive failure, and compare it with a healthy, female control group. 27855570 2017
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE Correlation with Platelet Parameters and Genetic Markers of Thrombophilia Panel (Factor II g.20210G>A, Factor V Leiden, MTHFR (C677T, A1298C), PAI-1, β-Fibrinogen, Factor XIIIA (V34L), Glycoprotein IIIa (L33P)) in Ischemic Strokes. 26951304 2016
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE A detailed thrombophilia workup demonstrated persistently elevated plasminogen activator inhibitor 1 (PAI-1) activity levels, with an elevated PAI-1 antigen concentration and homozygosity for the PAI-1 4G allele (4G/4G genotype). 27287941 2016
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE Among genetic thrombophilia, the risk of PL was highest with protein S deficiency (16%, p=0.006) followed by plasminogen activator inhibitor-1 4G/4G (23%, p=0.007) polymorphism. 26227844 2015
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE Elevated PAI-1 level leading to impaired fibrinolysis plays a significant role in producing hypercoagulable state in primary and secondary APS. 23519427 2013
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE Thus, this mini-review aims to address a comprehensive summary of thrombophilias and thrombosis, and discuss the role of polymorphisms in Factor V (FV Leiden), Prothrombin, Plasminogen activator inhibitor type-1 (PAI-1), Methylenetetrahydrofolate reductase (MTHFR) and Cystathionine β-synthase (CBS) genes as risk factors for thrombophilias. 22512572 2012
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE Consequently, expression of tissue factor, urokinase receptor, and PAI-1 mRNA and PAI-1 protein secretion induced by busulfan were significantly reduced by the activin A/TGF-β1 inhibitor SB 431542 in ECV304 and primary endothelial cells.Conclusions This is the first report that directly relates busulfan exposure to antifibrinolytic activity by PAI-1 and hypercoagulation possibly mediated by members of the TGF-β1 family. 22286157 2012
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE When considering the variants of the PAI-1 promoter genotype in combination with known genetical thrombophilias, no differences were found either. 22527222 2012
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE Two are associated with thrombophilia (765 4G/5G and -844 A>G, in the promoter), risk of myocardial infarction and postoperative deep venous thrombosis related to higher than normal levels of PAI-1. 21663586 2011
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE The authors used polymerase chain reaction (PCR) measures for thrombophilia (FVL, PTG, C677T-A1298C methylenetetrahydrofolate reductase [MTHFR], platelet glycoprotein PLA1A2) and hypofibrinolysis (plasminogen activator inhibitor-1 4G4G). 18796459 2009
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker disease BEFREE Elevated plasma concentrations of plasminogen activator inhibitor type 1 (PAI-1), also named serpin E1, are encountered in patients with thrombophilia, atherosclerosis, septicemia and the metabolic syndrome and may be associated with an increased risk of complications. 19132219 2008
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE Forty-one patients with a first episode of a retinal artery occlusion underwent complete ophthalmic examination, routine blood testing and specific laboratory tests for thrombophilia, such as fasting and postmethionine homocysteine, lipoprotein(a), plasminogen activator inhibitor-1, factor VIII, factor V Leiden, factor II G20210A polymorphism, lupus anticoagulant and anticardiolipin antibodies. 17473572 2007
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker disease BEFREE Since NF-kappaB-mediated gene products, such as fibrinogen and PAI-1, are known to facilitate hypercoagulation, thrombosis and vascular events, we suggest that nilvadipine has a direct beneficial effect separate from its anti-hypertensive properties by inhibiting NF-kappaB-dependent gene expression and eventually inhibiting atherosclerosis. 15530472 2004
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE In conclusion, PAI-1 4G/5G polymorphism may influence PAI-1 expression and thrombotic risk in patients with inherited thrombophilia. 14653439 2003