rs1217691063, MTHFR

N. diseases: 614
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.100 GeneticVariation BEFREE Via MTHFR C677T polymorphism, the findings in the present study demonstrated that there exists evidence on causal link between Hcy concentration and the risk of hypertension. 31769183 2019
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE The pooled results showed that MTHFR C677T variant increased the risk of ischemic stroke (OR = 1.23, 95%CI 1.06-1.43, P = 0.0067 for CT + TT vs. CC; OR = 1.18, 95%CI 1.01-1.38, P = 0.0333 for CT vs. CC; OR = 1.41, 95%CI 1.14-1.75, P = 0.0016 for TT vs. CC; OR = 1.27, 95%CI 1.05-1.54, P = 0.0145 for TT vs. CC + CT; OR = 1.18, 95%CI 1.06-1.31, P = 0.0023 for T-allele vs. C-allele). 31775641 2019
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE Our findings suggest that C677T polymorphism of MTHFR seems to be a good marker for MTX-related toxicity in ALL. 30545275 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is a genetic factor that has been associated with many pathologies, including cancer. 31170928 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Furthermore, it has been shown in patients with breast cancer a risk of presenting with an aggressive biophenotype about twice or three times higher in the presence of the C677T and A1298C polymorphisms, respectively. 31523170 2019
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring: a case-control study among Pakistani case and control mothers. 29222906 2019
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE MTHFR (C677T, A1298C) and MTRR A66G polymorphisms were found to be protector factors for NTD fetuses in the mother group. 31238314 2019
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
0.100 GeneticVariation BEFREE The laboratory tests revealed high D-dimers, and positive IgG anti-cardiolipin and anti-beta2 glycoproteins I antibodies, whereas the genetic profile for thrombophilia revealed heterozygote mutation in MTHFR C677T and A1298C genes. 31725629 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE Our results indicated that MTHFR C677T polymorphism confers to T2DM, especially in Asian populations. 31663297 2019
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation BEFREE The 5,10-MTHFR 677C>T and RFC1 80G>A polymorphisms are associated with an increased risk of susceptibility to pediatric ALL. 31499477 2019
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.100 GeneticVariation BEFREE The distribution of genotype frequency at C677T polymorphism site was significantly different between the CHD group (including ventricular septal defect, atrial septal defect, tetralogy of fallot, double outlet right ventricle, patent ductus arteriosus) (child and mother) and healthy control group (child and mother). 30334422 2019
Migraine Disorders
CUI: C0149931
Disease: Migraine Disorders
0.100 GeneticVariation BEFREE Expert opinion: Determination of MTHFR C677T polymorphisms as well as measurement of homocysteine concentrations may be useful to migraine patients, particularly those suffering from migraine with aura. 30451038 2019
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.100 GeneticVariation BEFREE Association Between the 5,10-MTHFR 677C>T and RFC1 80G>A Polymorphisms and Acute Lymphoblastic Leukemia. 31499477 2019
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE Association Between the 5,10-MTHFR 677C>T and RFC1 80G>A Polymorphisms and Acute Lymphoblastic Leukemia. 31499477 2019
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation BEFREE Our findings suggest that C677T polymorphism of MTHFR seems to be a good marker for MTX-related toxicity in ALL. 30545275 2019
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE There was no difference in the distribution of the <i>MTHFR</i> 677C>T polymorphism between individuals with NW and overweight/obesity; neither when they were divided by overweight vs NW, nor when we contrasted obese vs NW. 31496910 2019
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
0.100 GeneticVariation BEFREE MTHFR C677T polymorphism was not associated with cervical cancer and HPV infection. 31170928 2019
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.100 GeneticVariation BEFREE Here, we first adopted methylenetetrahytrofolate reductase (MTHFR) gene C677T polymorphism as an instrument to infer the possible causal relevance between circulating homocysteine and DKD risk in a Chinese population and next attempted to build a risk prediction model for DKD. 30729677 2019
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE We observed a significant decrease in risk for the C677T polymorphism (OR range=0.54-0.75, p<0.01) and a significant increase in risk for the A1298C polymorphism (OR range=1.28-2.52, p<0.05) in developing ALL for all genetic models. 31188929 2019
Miscarriage
CUI: C4552766
Disease: Miscarriage
0.100 GeneticVariation BEFREE Investigation of the association between C677T polymorphism of the MTHFR gene and plasma homocysteine level in recurrent fetal miscarriage. 31172624 2019
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
0.100 GeneticVariation BEFREE MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95). 30474229 2019
Male infertility
CUI: C0021364
Disease: Male infertility
0.100 GeneticVariation BEFREE Sensitivity analyses indicated that the final consequences of this meta-analysis were stable, and the publication biases test had not found obvious asymmetry.This meta-analysis indicates that MTHFR C677T, A1298C, and MTRR A66G polymorphisms are the risk factors with susceptibility to male infertility in Asians. 30813130 2019
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation BEFREE We observed a significant decrease in risk for the C677T polymorphism (OR range=0.54-0.75, p<0.01) and a significant increase in risk for the A1298C polymorphism (OR range=1.28-2.52, p<0.05) in developing ALL for all genetic models. 31188929 2019
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.100 GeneticVariation BEFREE The present updated meta-analysis demonstrated that the MTHFR C677T polymorphism was significantly associated with susceptibility to lung cancer in Chinese people. 31192962 2019
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.100 GeneticVariation BEFREE While C677T is known to play major roles in the risk of adult schizophrenia, our finding for the first time suggests an age-specific association between MTHFR polymorphisms and schizophrenia. 31302825 2019