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 To evaluate the genetic polymorphism of MTHFR C677T among β-TM patients and its prospective contribution to Hhcy and related oxidative changes. 27187171 2016
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The thermolabile variant of methylene-tetrahydrofolate reductase (MTHFR), c.677C>T, is one of the most common genetic condition, which has been associated with mild to moderate hyperhomocysteinemia, and carriers of this variant are at increased risk of an early-onset stroke-like episode. 23526309 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The C677T mutation in the methylenetetrahydrofolate reductase gene predisposes to hyperhomocysteinemia in children with familial hypercholesterolemia treated with cholestyramine. 9506661 1998
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Prevalence of myocardial infarction is related to hyperhomocysteinemia but not influenced by C677T methylenetetrahydrofolate reductase and A2756G methionine synthase polymorphisms in diabetic and non-diabetic subjects. 15820491 2005
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Erythrocyte membrane Na+,K+-ATPase and Mg2+-ATPase activities in subjects with methylenetetrahydrofolate reductase (MTHFR) 677 C-->T genotype and moderate hyperhomocysteinaemia. The role of L-phenylalanine and L-alanine. 16599836 2006
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The C677T mutation in the methylenetetrahydrofolate reductase gene contributes to hyperhomocysteinemia in patients taking anticonvulsants. 12015164 2002
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The 677C>T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is an important cause of mild hyperhomocysteinaemia. 14656017 2003
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The MTHFR C677T and A1298 polymorphisms (individually or in concert) and hyperhomocysteinemia represent important risk factors for IS. 23642756 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The prevalences of hyperhomocysteinemia or MTHFR variant were not increased in comparison to NHANES. tHcy did not differ between those with wild-type MTHFR versus either c.677C>T heterozygotes or homozygotes. 23866722 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE There are limited data on the role of methylenetetrahydrofolate reductase C677T polymorphism and hyperhomocysteinemia as risk factors for cerebral venous thrombosis in Iranian population. 26083986 2015
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Subjects with the 677C-->T variant have impaired remethylation of Hcy to methionine that could determine hyperhomocysteinemia. 12471611 2003
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The role of vitamin B12 in fasting hyperhomocysteinemia and its interaction with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. A case-control study of patients with early-onset thrombotic events. 10780318 2000
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The C677T polymorphism reduces enzymatic capability by 50% and causes hyperhomocysteinaemia. 17714520 2009
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE To this purpose we have used platelets harvested from healthy volunteers or patients newly diagnosed with hyperhomocysteinemia with a C677T polymorphism of the MTHFR gene (MTHFR++). 24019484 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE We analysed three candidate polymorphisms in genes involved in the PC anticoagulant pathway, consisting of two polymorphic sites in the 5' non-transcribed region of the PC gene, -1654 C/T and -1641 A/G, with three known combinations (TA, CA and CG) that influence the protein C plasma level; one polymorphic site (4070 A/G) in exon 13 of the FV gene, which influences the plasma factor V concentration, and one polymorphic site (677 C/T) in the methylenetetrahydrofolate reductase gene, which is often associated with moderate hyperhomocysteinaemia. 10519989 1999
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The MTHFR C677T polymorphism showed no direct association with hyperhomocysteinemia or increased mean plasma concentrations of Hcy. 19565133 2009
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE MTHFR C677T and hyperhomocysteinemia have been identified as risk factors for autism worldwide. 27755291 2016
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
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE To assess whether MTHFR gene polymorphism (C677T) by causing hyperhomocysteinemia affects the retinal AVR in type 2 diabetic and non-diabetic subjects. 12356186 2002
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE To investigate the distribution of MTHFR C677T and A1298C as well as PON1 Q192R gene polymorphisms, known to be involved in hyperhomocysteinemia-related cardiovascular risk, in elite athletes. 26282718 2016
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 The C677T mutation of the methylenetetrahydrofolate reductase gene, which may lead to hyperhomocysteinemia, is also considered a risk factor for VTE in some studies. 17401546 2007
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE MTHFR 677C/T polymorphism is associated with the risk of vascular diseases due to hyperhomocysteinemia. 19646848 2009
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with reduced enzyme activity, hyperhomocysteinaemia and increased risk for atherosclerosis in homozygotes. 11094304 2000
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The C677T variant of methylenetetrahydrofolate reductase (MTHFR), a key enzyme in the remethylation of homocysteine to methionine, is a frequent genetic cause of mild hyperhomocysteinemia among individuals with low folate status. 14608052 2003