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 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 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 The MTHFR C677T and CBS 844ins68 variants tested in this study, individually or combined, are not associated with CVD in the Algerian population. 20939734 2010
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 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 Does the MTHFR C677T gene polymorphism indicate cardiovascular disease risk in type 2 diabetes mellitus patients? 25537992 2015
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 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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE Influence of MTHFR C677T gene polymorphism in the development of cardiovascular disease in Egyptian patients with rheumatoid arthritis. 28215593 2017
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE Two genes of the CVD panel demonstrated a strong relationship with RPL, including, MTHFR (C677T homozygosity, A1298C homozygosity, and compound heterozygosity for C677T and A1298C) and Factor II (heterozygosity for G20210A). 29974397 2018
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 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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE The methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism has been shown to be associated with cardiovascular disease and in patients with end-stage renal disease (ESRD). 17899317 2008
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 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 We recently reported that the elevated blood pressure (BP) observed in patients with cardiovascular disease who are homozygous for the 677C→T polymorphism (TT genotype) in the gene encoding methylenetetrahydrofolate reductase (MTHFR) was responsive to supplementation with riboflavin-the cofactor for MTHFR. 22277556 2012
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 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
Cardiovascular Diseases
CUI: C0007222
Disease: 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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE The aim of the present work was to examine possible genetic risk factors related to the occurrence of cerebrovascular disease (CVD) in Brazilian population, the frequency of β(S)-globin gene haplotypes and co-inheritance with α-thalassemia (-α(3.7kb)) and single nucleotide polymorphism of methylenetetrahydrofolate reductase (MTHFR-C677T), Factor V Leiden (FV-G1691A) and prothrombin (PT-G20210A) genes in children from Rio de Janeiro. 21755116 2011
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 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