Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE Fasting total plasma Hcy, folate, pyridoxal 5'-phosphate (PLP; active B6), B12, creatinine, glucose, total and HDL cholesterol levels, and presence of the ala to val MTHFR mutation were determined, and clinical CVD and CVD risk factor prevalence were ascertained. 8782850 1996
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group 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
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE However, a frequent homozygous mutation in the MTHFR gene is associated with a threefold increase in risk for premature cardiovascular disease. 8554066 1996
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group 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
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group 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
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE A common mutation (C677-->T) in methylenetetrahydrofolate (MTHFR) gene, involved in the metabolism of homocysteine, has been suggested to play a role in increasing cardiovascular disease risk. 9051203 1997
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group 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
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE We designed molecular beacons to detect a point mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, a mutation that has been related to an increased risk for cardiovascular disease and neural tube defects. 9510851 1998
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE A polymorphism associated with a thermolabile variant (C677T) of the enzyme methylenetetrahydrofolate reductase has been associated with both elevated total homocysteine (tHcy) levels and risk for cardiovascular disease. 9681281 1998
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE From these results, we conclude that the Val/Val homozygous state of the MTHFR gene increased the risk of thrombosis, but reduced the blood pressure, which resulted in the lack of increased risk for CVD. 9715796 1998
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE A common polymorphism in the MTHFR gene is a major determinant of the total homocysteine level, but is unrelated to cardiovascular disease risk in most studies. 9868588 1998
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE This study investigated the relationship between MTHFR polymorphism and (1) fasting HCY levels (77 patients); (2) post-methionine HCY levels (54 patients); and (3) postprandial HCY concentrations (36 patients) in cardiovascular disease. 10399090 1999
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE Apolipoprotein E and methylenetetrahydrofolate reductase genetic polymorphisms in relation to other risk factors for cardiovascular disease in UK Caucasians and Black South Africans. 10428303 1999
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE A common mutation in methylenetetrahydrofolate reductase (MTHFR), a homocysteine metabolic pathway enzyme, has been associated with increased homocysteine levels and increased risk for premature cardiovascular disease. 10408794 1999
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group 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
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE The overall odds ratio of the MTHFR gene on cardiovascular disease was estimated using the Mantel-Haenzel method. 11058711 2000
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group 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
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group 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
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE The cardiovascular disease mortality rate was highest among women with the MTHFR 677 CC wild-type genotype and lowest among MTHFR 677 TT homozygotes. 11282795 2001
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group 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
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE MTHFR gene polymorphism, homocysteine and cardiovascular disease. 11683544 2001
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE Mutation in the thermolabile MTHFR gene might be an important cause for CVD related to peripartum or contraceptive use. 11306861 2001
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group 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
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group 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
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE However, folate deficiency, either associated or not associated with the thermolabile mutation of the N(5,10)-methylenetetrahydrofolate reductase, and vitamin B(6) deficiency, perhaps associated with cystathionine beta-synthase defects or with methionine excess, are believed to be major determinants of the increased risk of cardiovascular disease related to hyperhomocysteinemia. 11351038 2001