rs397507444, MTHFR

N. diseases: 306
Source: ALL
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 Thrombophilic profile (factor V G1691A (Leiden), factor V H1299R (R2), prothrombin G20210A, MTHFR C677T, MTHFR A1298C, factor XIII V34L, β-fibrinogen-455 G-A and plasminogen activator inhibitor (PAI)-1 4G/5G) was evaluated using the cardiovascular diseases (CVD) StripAssay based on DNA isolation, PCR and reverse hybridisation. 31300468 2019
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 A total of nine gene variants/polymorphisms - F5 (Leiden - R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (V34L, rs5985), MTHFR (677C > T - A222V, rs1801133), MTHFR (1298A > C - 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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE Mutation analyses were conducted using the real-time polymerase chain reaction method to screen six common mutations (Factor V G1691A, PT G20210A, Factor XIII V34L, MTHFR A1298C and C677T and PAI-1 -675 4G/5G) found in CVD panel. 24532105 2014
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE In addition, the 1298A>C variant was significantly associated with CVD (OR = 3.32; P = 0.030). 21270364 2011
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 Thus, A1298C polymorphism of MTHFR gene appears to be associated with the severity of carotid atherosclerosis and co-occurrence of MTHFR polymorphisms may be a risk factor for CVD in patients on hemodialysis. 17899317 2008
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 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 Since homocysteine itself is considered to be positively associated with the risk of CVD, these findings indicate that the 1298A-->C mutation cannot be considered a major risk factor for CVD. 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