Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE Interrelationships among the MTHFR 677C>T polymorphism, migraine, and cardiovascular disease. 18672474 2008
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE In end-stage renal disease, MTHFR C677T polymorphisms were not associated with cardiovascular disease or mortality. 15618240 2005
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE The C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR) is associated with an increase in total homocysteine serum levels (tHcy), described as a risk factor for cardiovascular disease. 15073633 2005
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE These results suggest that the MTHFR C677T variant mildly influences CVD. 16380767 2005
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE An association between the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and inflammation markers related to cardiovascular disease. 15837084 2005
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE Hyperhomocysteinemia, serum folate levels and both C677T and A1298C MTHFR mutations are associated with CVD in HD patients. 12187094 2002
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE Some examples include the alanine-to-valine substitution at codon 222 (Ala222-->Val) [DNA: C-to-T substitution at nucleo-tide 677 (677C-->T)] in methylenetetrahydrofolate reductase (NADPH) and the cofactor FAD (in relation to cardiovascular disease, migraines, and rages), the Pro187-->Ser (DNA: 609C-->T) mutation in NAD(P):quinone oxidoreductase 1 [NAD(P)H dehy-drogenase (quinone)] and FAD (in relation to cancer), the Ala44-->Gly (DNA: 131C-->G) mutation in glucose-6-phosphate 1-dehydrogenase and NADP (in relation to favism and hemolytic anemia), and the Glu487-->Lys mutation (present in one-half of Asians) in aldehyde dehydrogenase (NAD + ) and NAD (in relation to alcohol intolerance, Alzheimer disease, and cancer). 11916749 2002
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE The authors investigated the relation between the MTHFR 677 C/T polymorphism and risk of cardiovascular disease mortality in a cohort study of 12,239 women initially aged 52--67 years with a maximum follow-up time of 18 years (1976--1995; 153,732 woman-years of follow-up). 11282795 2001
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE We examined the relationship of two polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, the 677C-->T and 1298A-->C variants, to MTHFR activity, homocysteine concentrations, and risk of CVD in a population of 190 vascular disease patients and 601 apparently healthy controls. 11692165 2001
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE 4) The C677T transition of the methylenetetrahydrofolate reductase gene causes a moderate increase in tHcy but no or only minor increased CVD risk. 10919921 2000
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE A common missense mutation of the methylenetetrahydrofolate reductase (MTHFR) gene (C677T) has been shown to be a risk factor for premature cardiovascular disease and neural tube defect. 9774778 1998
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
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