rs397507444, MTHFR

N. diseases: 306
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE The risk observed for A1298C was 2.28 and 2.12 times higher in variants (AC + CC) of both DVT and CAD (OR = 2.28, 95%CI = 1.09-4.75 and OR = 2.12, 95%CI = 1.02-4.40, respectively). 31571711 2020
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE The association of the A1298C polymorphism with three diseases (coronary heart disease, breast cancer and neural tube defects fathers) was statistically significant (p < 0.05). 27888505 2017
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE The negative and positive association of the 1298A allele with CAD being indicative of a neutral (absent) effect of the A1298C SNP on disease pathogenesis. 18204887 2009
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease: the A1298C polymorphism does matter. Inferences from a case study (Madeira, Portugal). 18384842 2008
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE Polymerase chain reaction-restriction fragment length polymorphism analysis was used to detect the C677T and A1298C variants of the MTHFR gene in 100 patients with CAD and 120 healthy controls. 16704755 2006
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C; methionine synthase (MS) A2756G; methionine synthase reductase (MTRR) A66G] in relation to total plasma Hcy levels, transplant coronary artery disease and thromboembolic episodes in 84 heart transplant patients, and we compared the incidence of these polymorphisms with those in a healthy adult controls. 15612980 2005
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE Association of MTRRA66G polymorphism (but not of MTHFR C677T and A1298C, MTRA2756G, TCN C776G) with homocysteine and coronary artery disease in the French population. 16268464 2005
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE Age and hypertension related changes in genotypes of MTHFR 677C>T, 1298A>C and PON1 -108C>T SNPs in men with coronary artery disease (CAD). 16077191 2005
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE After adjustment for other risk factors for CAD, plasma homocysteine (p = 0.89), MTHFR gene C677T (p = 0.38), or A1298C polymorphisms (p = 0.13) were not independent correlates of CAD. 15135689 2004
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE We investigated the influence of elevated homocysteine plasma levels and 2 polymorphisms, 677C/T and 1298A/C, of the methylenetetrahydrofolate reductase (MTHFR) gene on the risk of restenosis after stenting in patients with symptomatic coronary artery disease. 14604831 2003
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE The prevalence of the 677 C-->T and 1298 A-->C compound heterozygosity was 9.6% for the BD group and 12.3% for the CAD group. 14521457 2003
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE These findings do not support a major role for the A1298C mutation in homocysteine metabolism and emphasize the hypothesis that MTHFR genotypes may interfere with coronary artery disease risk only when an unbalanced nutritional status leads to raised total plasma homocysteine levels. 12049191 2002
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE Mutation A1298C of methylenetetrahydrofolate reductase: risk for early coronary disease not associated with hyperhomocysteinemia. 11343335 2001
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE The prevalences of the C677T and A1298C polymorphisms did not differ among individuals with CAD, DVT, or those without documented vascular disease. 11274015 2001
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE Although three common MTHFR polymorphisms (C677T, A1298C, T1317C) have been reported, only polymorphism C677T has been investigated intensively as a risk factor for coronary artery disease (CAD). 11257266 2001