rs1217691063, MTHFR

N. diseases: 614
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE 5,10-methylenetetrahydrofolate reductase (MTHFR) is a folate-dependent enzyme that catalyzed remethylation of homocysteine (Hcy) and the MTHFR C677T polymorphism makes the MTHFR enzyme thermolabile causing hyperhomocysteinemia. 24052451 2014
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Hyperhomocysteinaemia and MTHFR C677T gene polymorphism in renal transplant recipients. 11420199 2001
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Hyperhomocysteinemia increases the risk of venous thrombosis independent of the C677T mutation of the methylenetetrahydrofolate reductase gene in selected Brazilian patients. 11943942 2002
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Hyperhomocysteinemia is an independent risk factor for cerebrovascular disease and the homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene can induce hyperhomocysteinemia. 14644077 2003
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Hyperhomocysteinemia and methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations in patients with inflammatory bowel disease. 16262529 2005
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Hyperhomocysteinemia in patients homozygotes for the C677T mutation may interfere with erection mechanisms and thus be responsible for ED. 19694922 2010
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Hyperhomocysteinaemia was significantly more frequent in migraine patients with the C677T variant. 23161188 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE C677T polymorphism in methylenetetrahydrofolate reductase gene (MTHFR) is a major determinant of hyperhomocysteinemia, which results in endothelial dysfunction. 15226090 2004
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE A 31 year old woman with essential hypertension grade III and branch retinal vein occlusion with homozygous C677T MTHFR hyperhomocysteinemia and high Lp(a) levels. 19135738 2010
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE A common mutation (C677T) in the gene encoding for methylenetetrahydrofolate reductase (MTHFR) is responsible, in the homozygous state, for decreased enzyme activity and mild hyperhomocysteinemia and is associated with increased risk for cardiovascular disease. 9327760 1997
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE A common mutation in methylenetetrahydrofolate reductase (MTHFR), 677C-->T, is associated with reduced enzyme activity, a thermolabile enzyme and mild hyperhomocysteinemia, a risk factor for vascular disease. 11395038 2001
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE A common point mutation (C677T) in the gene for 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with hyperhomocysteinemia, an independent risk factor and a strong predictor of mortality in patients with coronary artery disease (CAD). 15301885 2004
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE A common variant of this enzyme, resulting from a 677C-->T (Ala-->Val) substitution in the gene, has been shown to have reduced activity and is associated with mild hyperhomocysteinemia. 11751445 2001
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE A cross-sectional study was performed in 120 maintenance HD patients to determine the prevalence of MTHFR C677T and A1298C mutations and their relative association to hyperhomocysteinemia and CVD. 12187094 2002
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE A prevalence of up to 30% of fasting hyperhomocysteinemia has been recently reported in patients with retinal vein occlusion (RVO) whereas conflicting data exist on the role of C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene as a risk factor for RVO. 12877902 2003
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE A statically significant, albeit weak, correlation between the MTHFR C677T mutation and hyperhomocysteinemia was found in all three diseases. 22928918 2012
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE A thrombophilic evaluation was performed, revealing hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) variants (C677T and A1298C). 24923843 2014
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE After multiple adjustment for other univariate predictors by Cox regression, including statin therapy (the most powerful predictor in uni-/multivariate analyses), high-sensitivity C Reactive Protein (hs-CRP) levels, and all known major genetic (MTHFR 677C-->T polymorphism) and non-genetic (B-group vitamin status and renal function) tHcy determinants, HHcy remained an independent prognostic factor for mortality (HRs: 5.02, 95% CIs 1.88 to 13.42, P = 0.001). 17183715 2006
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE All participants had a thrombotic workup that included the following: genetic markers: factor V Leiden G1691A and G20210A prothrombin mutations, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms; protein assays: protein C, protein S and antithrombin; other tests: blood typing and screening for hyperhomocysteinemia. 23337711 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE APS, revealed by anti-beta-2-glycoprotein and anti-prothrombin antibodies positivity, and moderate HHcy related to heterozygous C677T and A1298C point mutations of the MTHFR gene were identified as a possible cause of thrombotic disorder responsible for the widespread presence of cutaneous and cerebral lesions. 16595601 2006
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Association of methylenetetrahydrofolate reductase (MTHFR) 677C>T gene polymorphism with hyperhomocysteinemia, renal failure, and cardiovascular events is controversial. 23534584 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Association of pre-eclampsia with hyperhomocysteinaemia and methylenetetrahydrofolate reductase gene C677T polymorphism in a Turkish population. 15387863 2004
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Association of vitamin B12 mediated hyperhomocysteinemia and methylenetetrafolate reductase (C677T) gene polymorphism with cognitive impairment: A population based study from North India. 30245375 2018
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Because they have been described as strong risk factors for idiopathic recurrent pregnancy losses (RPLs), we assessed the association between the methylenetetrahydrofolate reductase (MTHFR) single-nucleotide polymorphisms (SNPs) C677T and A1298C and hyperhomocysteinemia in Tunisian women with idiopathic RPL. 16452733 2006
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Coenzyme Q10, hyperhomocysteinemia and MTHFR C677T polymorphism in levodopa-treated Parkinson's disease patients. 22354693 2012