MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE To determine prevalence of methylenetetrahydrofolate reductase (MTHFR) mutations in apparently healthy individuals residing in Mumbai and patients with deep vein thrombosis (DVT) and coronary artery disease (CAD) and to correlate these polymorphisms with homocysteine (Hcy) levels. 31571711 2020
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE Polymorphisms of the 677th site C/T in MTHFR gene for 101 patients with lower extremities deep venous thrombosis (DVT group) and 120 healthy subjects (control group) were detected by polymerase chain reaction with sequence-specific primers. 30303041 2019
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE Moreover, the MTHFR rs1801133 polymorphism may be implicated in the development of deep vein thrombosis and pulmonary embolism, while the MTHFR rs1801131 polymorphism may contribute to the development of pulmonary embolism. 30466296 2019
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE Thus, the aim of the present study is to determine the prevalence of FVL, MTHFR C677T and MTHFR A1298C gene polymorphisms in patients with DVT in central Iran. 29855758 2018
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE GpIIIa 1565T/C and homozygous MTHFR 677C/T polymorphisms were higher in DVT patients compared with the control group (OR=6.65, 95% CI=3.09-14.30 and OR=4.08, 95% CI=1.35-12.38, respectively). 26261166 2015
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE PAI-1 4G/5G and MTHFR C677T polymorphisms increased the accuracy of two prediction scores for the risk of acute lower extremity deep vein thrombosis. 24715181 2014
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE The authors described a unique patient with Klinefelter's syndrome who presented with deep vein thrombosis of the leg and underlying mutations of MTHFR gene, increased factor VIII coagulant activity and an elevated anticardiolipin antibody. 23377169 2013
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE However, the frequency of the MTHFR C677T polymorphism was significantly higher in patients with SVT compared with DVT (CT 12 versus 10, and TT 7 versus 1, respectively, P < 0.001). 20881312 2011
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE The presence of homozygous MTHFR A1298C mutation was significantly associated with DVT (P=0.020). 21080081 2011
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE The aim of present study was to investigate the prevalence of factor V Leiden (FVL) c.1691G>A, prothrombin g.20210G>A and methylenetetrahydrofolate reductase (MTHFR) c.677C>T in deep vein thrombosis (DVT) patients and their possible association with DVT in western Iran. 20479641 2010
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE In addition, only MTHFR C677T polymorphism constituted a molecular biomarker of DVT in Chilean population. 20707729 2010
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE Patients with homozygous or combined heterozygous status of MTHFR C677T and A1298C mutation had a higher frequency of DVT after elective THA (odds ratio, 2.86; 95% confidence interval, 1.32-6.35) than those with wild-type. 18800213 2009
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE The frequency of T allele of MTHFR-677 was lower in healthy participants (0.355) than in patients with occlusive artery disease (0.388) and deep venous thrombosis (0.425). 18293456 2008
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 Biomarker disease CTD_human Acute anuric renal failure with streptokinase therapy in a patient with acute venous thromboembolic disease and the review of renal side effects of streptokinase. 19123085 2008
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE Plasma concentration of tHcy in AC genotype of MTHFR A1298C was increased in patients with OAD and in patients with DVT. 18800176 2008
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE A mutation in the factor V and methylenetetrahydrofolate reductase (MTHFR) gene, the commonest inherited risk factor for venous thrombosis, may contribute to the risk of both arterial and deep-vein thrombosis in patients with nephrotic syndrome. 18030499 2008
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE We studied prothrombotic determinants, namely protein C, protein S, and AT along with factor V Leiden (1691G-->A), prothrombin gene mutation (20210G-->A), CBS 844ins68 mutation, and MTHFR mutation (677C-->T) in consecutive ethnic Omani patients with first episode of a thrombophilic event, namely, deep vein thrombosis (DVT), and/or pulmonary embolism (PE) or thrombosis at an unusual site. 16432849 2006
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE The homozygous 677TT mutation of the MTHFR gene has been linked to deep vein thrombosis and to arterial atherosclerotic events of the coronary, carotid and peripheral arteries. 16158041 2005
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE To determine the incidence of deep venous thrombosis (DVT) recurrence in young people, and its association with some genetic polymorphisms (FV G1691A, FII G20210A, MTHFR C677T, PAI-1 4G/5G). 16061406 2005
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE This indicates that FV-Leiden and PRT G20210A, more than MTHFR C677T, are important risk factors for DVT, and that the presence of more than one prothrombotic SNPs was associated with a significant risk of DVT. 16082606 2005
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE In conclusion, MTHFR TT677 does not appear to be an important risk factor for DVT, EPCR 403ins23 seems to be very rare, its role in the development of DVT unclear. 12413583 2002
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE However, we found that the VV genotype of the MTHFR gene is a risk factor for DVT only when combined with the predisposition of thrombophilia. 10706928 2000
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE MTHFR gene C677T mutation does not increase risk of DVT in BD either alone or combined with FV Leiden mutation. 11128675 2000
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE We investigated the prevalence of a genetic variation in the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene (C677T) using polymerase chain reaction techniques in a sample of 500 general Thai population and among 40 unselected Thai patients with an objectively confirmed history of deep vein thrombosis (DVT). 11014892 2000
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.500 GeneticVariation disease BEFREE These data do not support a critical role of MTHFR 1298 A --> C in the predisposition to DVT. 10233437 1999