Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 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

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation BEFREE MTHFR gene polymorphism, homocysteine and cardiovascular disease. 11683544

2001

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation BEFREE Methylenetetrahydrofolate reductase variants associated with hypertension and cardiovascular disease interact with dietary polyunsaturated fatty acids to modulate plasma homocysteine in puerto rican adults. 21270364

2011

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation BEFREE A common C677T polymorphism in MTHFR has been associated with an increased risk for the development of cardiovascular disease, Alzheimer's disease, and depression in adults, and of neural tube defects in the fetus. 23116396

2013

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 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

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 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

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation 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

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation 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

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 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

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation 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

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation BEFREE A meta-analysis was performed to estimate the risk of CVDs associated with MTHFR c.677C>T in Turkish population. 24264431

2014

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 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

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation 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

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation BEFREE A total of nine gene variants/polymorphisms - F5 (Leiden - R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (rs5985" genes_norm="2162">V34L, rs5985), MTHFR (677C > T - rs1801133;rs771406104;rs1455404812;s771406104" genes_norm="1636;2244;4524">A222V, rs1801133), MTHFR (1298A > C - rs1801131" genes_norm="4524">E429A, rs1801131), FGB (-455G > A -c.-463G > A; rs1800790), SERPINE1 (PAI14G/5G - rs1799889), ACE (ACE I/D, rs1799752), ITGB3 (GPIIIa L33P, rs5918) and the APOE E2/E3/E4 alleles (rs7412, rs429358) - were genotyped in 200 newly diagnosed ischemic stroke (IS) patients, 165 patients with ischemic coronary heart disease (CHD) and 159 controls with no cerebroor cardiovascular disease (non-CVD). 27629735

2016

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation BEFREE Although hyperhomocysteinaemia and methylenetetrahydrofolate reductase gene polymorphism are accepted risk factors for cardiovascular disease, their association with micro angiopathy or blood pressure in diabetic patients is still being debated. 12242465

2002

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation LHGDN Among men with cSHMT 1420C-->T TT genotype, the odds ratios (OR) for CVD risk for MTHFR 677C-->T CT and TT genotypes compared with the MTHFR 677C-->T CC genotype were 3.6 (95% CI, 1.7-7.8) and 10.6 (95% CI, 2.5-46.0), respectively. 16046727

2005

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation BEFREE Among men with cSHMT 1420C-->T TT genotype, the odds ratios (OR) for CVD risk for MTHFR 677C-->T CT and TT genotypes compared with the MTHFR 677C-->T CC genotype were 3.6 (95% CI, 1.7-7.8) and 10.6 (95% CI, 2.5-46.0), respectively. 16046727

2005

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation 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

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation BEFREE But an association between MTHFR 677 gene polymorphism and pHcy levels was concluded, which may suggest that MTHFR 677 TT polymorphism may be a potential prognostic factor for cardiovascular disease in patients with AS. 23247802

2013

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation BEFREE Does the MTHFR C677T gene polymorphism indicate cardiovascular disease risk in type 2 diabetes mellitus patients? 25537992

2015

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 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

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation 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

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation BEFREE Folate has been implicated in cardiovascular disease with atypical antipsychotic (AAPs) use, and individuals with methylenetetrahydrofolate reductase (MTHFR) and catechol-O-methyl transferase (COMT) variants are at greater risk. 22370993

2012

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation 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

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation BEFREE Genetic variation in folate-mediated one-carbon metabolism, other than the well-known effects of the MTHFR c.665C>T (known as c.677 C>T, rs1801133, rs1801133;s1801133;rs1355489726" genes_norm="4524;6573">p.Ala222Val), is predictive of cardiovascular disease biomarkers. 22103680

2011