Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE The C677T genotype of MTHFR is associated with CVD in ESRD and may be a more meaningful marker than tHcy for abnormal homocysteine metabolism in ESRD. 11532106

2001

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Prevalence of methylenetetrahydrofolate gene (MTHFR) C677T polymorphism among chronic hemodialysis patients and its association with cardiovascular disease: a cross-sectional analysis. 19466593

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE A common polymorphism in the MTHFR gene (677C --> T) results in reduced enzymatic activity, and is associated with an increased risk for neural tube defects and cardiovascular disease. 19609317

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE The methylenetetrahydrofolate reductase (MTHFR) 677 C→T polymorphism may be associated with elevated total homocysteine (tHcy) levels, an independent risk factor for cardiovascular disease. 22782530

2012

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE In this review we have focused on the correlations between plasma homocysteine levels, the incidence of cardiovascular disease and the cytosine-to-thymidine substitution at nucleotide 677 (C677T) of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, coding for a key enzyme in methionine-homocysteine metabolism. 14728017

2001

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Plasma total homocysteine concentrations were highest in the subgroup of men with both polymorphisms, MTHFR 677C-->T TT and cSHMT 1420C-->T TT, consistent with a higher risk of CVD in this subgroup. 16046727

2005

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Thrombophilic profile (factor V G1691A (Leiden), factor V H1299R (R2), prothrombin G20210A, MTHFR C677T, MTHFR A1298C, factor XIII V34L, β-fibrinogen-455 G-A and plasminogen activator inhibitor (PAI)-1 4G/5G) was evaluated using the cardiovascular diseases (CVD) StripAssay based on DNA isolation, PCR and reverse hybridisation. 31300468

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Homozygosity for the C677T mutation in the gene for 5,10-methylenetetrahydrofolate reductase (MTHFR) is frequently associated with hyperhomocysteinemia, particularly in individuals with low levels of serum folate, and has been directly associated with cardiovascular disease in certain populations. 9974399

1999

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE In this large-scale prospective study, the association of homocysteine with CVD was markedly attenuated after adjusting for risk factors and was not modified by MTHFR 677C>T or intake of folate or B-vitamins. 17332146

2007

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE An association between the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and inflammation markers related to cardiovascular disease. 15837084

2005

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE We investigated total homocysteine (tHcy) concentrations and relations between tHcy and folate, cobalamin (Cbl), genetic polymorphisms (MTHFR 677C > T, MTHFR 1298A > C, MTHFR 1793G > A), blood pressure (BP), body mass index (BMI), cholesterol, triglycerides, sports activities, family and individual history of cardiovascular disease (CVD) and lifestyle issues in 264 healthy children and adolescents (2-17 y). 17065574

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Particular emphasis has been given to the role of two common polymorphisms (MTHFR 677C-->T, 1298A-->C) in cardiovascular disease, cerebrovascular disease, venous thrombosis, longevity, neural tube defects, pregnancy/preeclampsia, diabetes, cancer, psychiatry, renal failure and renal replacement therapy. 10720211

2000

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Riboflavin lowers blood pressure in cardiovascular disease patients homozygous for the 677C-->T polymorphism in MTHFR. 19952781

2010

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Meta-analyses have suggested an effect of MTHFR C677T genotype (rs1801133), a proxy for blood total homocysteine, on cardiovascular disease (CVD) in populations with low population dietary folate. 24458267

2014

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE In cardiovascular diseases, the MTHFR C677T mutation: 1) is associated with plasma Hcy levels; 2) is an independent risk factor for cardiovascular diseases, 3) is associated with plasma BNP levels, and 4) plasma Hcy levels are positively correlated with plasma BNP levels. 16958597

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Epidemiological studies, which provide a separate line of evidence to link this gene with blood pressure, show that the 677C→T polymorphism in MTHFR increases the risk of hypertension by 24-87% and CVD by up to 40%, albeit with a large geographical variation in the extent of excess disease risk suggestive of a gene-environment interaction. 27720779

2017

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE A point mutation (C677T) in the gene encoding methylenetetrahydrofolate reductase, an enzyme involved in homocysteine remethylation, has been reported to render the enzyme thermolabile and less active and has been associated with elevated tHcy in homozygous carriers (+/+ genotype) as well as with increased risk of premature cardiovascular disease. 8873653

1996

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE We conducted a cross-sectional analysis of demographics, the diet, tHcy level, presence of the C677T mutation in the methylenetetrahydrofolate reductase gene (a common genetic cause of elevated tHcy) in children, and the prevalence of parental CVD. tHcy increased after puberty and was inversely related to parental educational level. 9323065

1997

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Elevated homocysteine is an independent risk factor for cardiovascular disease and has been associated with a common C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene. 10329022

1999

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE The guanine to thymine polymorphism at position 894 of the eNOS gene (resulting in a change from glutamate to aspartate [Asp] at codon 298 [Asp298]) and the methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T) have been reported to be associated with atherosclerosis and cardiovascular disease. 15494775

2004

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE To examine the effects of changes in various lifestyle habits and lifestyle related biological CVD risk markers on changes in tHcy in relation to MTHFR(C677T) genotype. 16340945

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Mutant alleles with the 677C-->T and 1298A-->C polymorphisms of the MTHFR gene, and consequent lower methylentetrahydrofolate reductase enzyme activity, have been related to higher plasma homocysteine levels, which are associated with cardiovascular diseases. 12356947

2002

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Genes functioning in folate-mediated 1-carbon metabolism are hypothesized to play a role in cardiovascular disease (CVD) risk beyond the current narrow focus on the MTHFR 677 C→T (rs1801133) polymorphism. 22649255

2012

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Our findings indicate that the MTHFR 677C>T polymorphism may be associated with an elevated risk for CVD in ESRD patients, especially among Asians. 25050994

2014

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Interactions between the single nucleotide polymorphisms in the homocysteine pathway (MTHFR 677C>T, MTHFR 1298 A>C, and CBSins) and the efficacy of HMG-CoA reductase inhibitors in preventing cardiovascular disease in high-risk patients of hypertension: the GenHAT study. 18622257

2008