Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.030 GeneticVariation BEFREE Methylenetetrahydrofolate reductase (MTHFR) gene polymorphism 677C>T has been shown to be a risk factor for psychiatric disorders. 16545905

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.030 GeneticVariation BEFREE The methylenetetrahydrofolate reductase (MTHFR) gene variant C677T is suspected to be a risk factor for psychiatric disorders, but it remains uncertain whether the MTHFR C677T variant is associated with bipolar disorders. 18983889

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.030 GeneticVariation BEFREE MTHFR C677T was significantly associated with all of the combined psychiatric disorders (SZ, BPD and UDD); random effects odds ratio (OR)=1.26 for TT versus CC genotype carriers; confidence interval (CI) 1.09-1.46); meta-regression did not suggest moderating effects of psychiatric diagnosis, sex, ethnic group or year of publication. 21185933

2011

dbSNP: rs1217691063
rs1217691063
CUI: C2585317
Disease: Acquired thrombophilia
Acquired thrombophilia
0.020 GeneticVariation BEFREE A total of 808 white patients who developed preeclampsia (cases) and 808 women with previous uneventful pregnancies (controls) matched for age and parity were evaluated for inherited and acquired thrombophilia (factor V Leiden; factor II G20210A; methylenetetrahydrofolate reductase C677T; protein S, protein C, and antithrombin III deficiency; anticardiolipin antibodies; lupus anticoagulant; and hyperhomocysteinemia). 16246971

2005

dbSNP: rs1217691063
rs1217691063
CUI: C2585317
Disease: Acquired thrombophilia
Acquired thrombophilia
0.020 GeneticVariation BEFREE Fasting total homocysteine (tHcy) and the methylenetetrahydrofolate reductase (MTHFR) C677T mutation were evaluated in 91 patients with venous thromboembolism and without acquired thrombophilia, and in 91 age-matched and sex-matched controls. 11943942

2002

dbSNP: rs1217691063
rs1217691063
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis
0.010 GeneticVariation BEFREE The risk of acrocyanosis was significantly higher in patients homozygous for the mutation c.677C>T compared to those with no mutation (OR = 4.8 (95%CI 1.5-14.9)). 23816603

2015

dbSNP: rs1217691063
rs1217691063
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.010 GeneticVariation BEFREE We investigated the influence of MTHFR C677T polymorphism, folate status and other lifestyle, nutritional and disease-specific variables on CRT risk in acromegaly. 23807201

2014

dbSNP: rs1217691063
rs1217691063
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.060 GeneticVariation BEFREE We detected methylenetetrahydrofolate reductase (MTHFR) A1298C, MTHFR C677T, factor V Leiden, PAI-1, mutant prothrombin G20210A, plasma homocysteine, antithrombin III, protein S and activated protein C resistance. 20868443

2010

dbSNP: rs1217691063
rs1217691063
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.060 GeneticVariation BEFREE The difference of homocysteine, folate, vitamin B12, antithrombin III activity, protein C activity, free protein S activity, and activated protein C resistance were not statistically significant; and the number of subjects with MTHFR C677T, prothrombin G20210A, and factor V Leiden mutations were similar between the study groups. 25264994

2016

dbSNP: rs1217691063
rs1217691063
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.060 GeneticVariation BEFREE In addition, abnormal activated protein C resistance (or Factor V Leiden), Factor II G20219A variant, and the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR C677T) need to be considered. 19432826

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.060 GeneticVariation BEFREE The pooled OR (and 95% CI) were: protein C deficiency, 6.49 (2.96 to 14.27); protein S deficiency, 1.14 (0.34 to 3.80); AT deficiency, 1.02 (0.28 to 3.67); APCr, 1.34 (0.16 to 11.52); FV1691 GA, 1.22 (0.80 to 1.87); PT20210GA, 1.10 (0.51 to 2.34); MTHFR C677T, 1.70 (1.23 to 2.34); and total plasma homocysteine >95th centile, 1.36 (0.53 to 3.51). 15781933

2005

dbSNP: rs1217691063
rs1217691063
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.060 GeneticVariation BEFREE Fasting total homocysteine, protein C (PC), protein S (PS), antithrombin (AT), activated protein C resistance (APCR) and lupus anticoagulant (LA) were assessed.MTHFR C677T mutation was determined. 19940469

2010

dbSNP: rs1217691063
rs1217691063
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.060 GeneticVariation BEFREE Determinations in blood samples of homocysteine concentrations; the occurrence of 677 C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene; protein C activities; activated protein C resistance ratios; concentrations of free protein S antigen; antithrombin III activities; and the occurrence of factor V Leiden mutation. 10847236

2000

dbSNP: rs1217691063
rs1217691063
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
0.010 GeneticVariation BEFREE On multivariate logistic regression analysis, presence of a T allele in MTHFR C677T was found to be independently associated with higher circulating Hcy (odds ratio [OR] = 1.06, 95% confidence interval [CI]: 1.01-1.12, P = .024), and higher Gensini scores (OR: 1.01, 95% CI: 1.00-1.02, P = .046).MTHFR C677T TT polymorphism was associated with higher Hcy levels and more severe coronary lesions in patients with ACS. 29245302

2017

dbSNP: rs1217691063
rs1217691063
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
0.020 GeneticVariation BEFREE Plaque image characteristics, hyperhomocysteinemia, and gene polymorphism of homocysteine metabolism-related enzyme (MTHFR C677T) in acute coronary syndrome. 23314883

2013

dbSNP: rs1217691063
rs1217691063
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
0.020 GeneticVariation BEFREE MTHFR C677T gene polymorphism and the severity of coronary lesions in acute coronary syndrome. 29245302

2017

dbSNP: rs1217691063
rs1217691063
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease
0.010 GeneticVariation BEFREE Recipient MTHFR polymorphisms (C677T) were associated with acute GvHD (P=0.03), and recipient VDR TaqI with TRM and overall survival (P=0.006 and P=0.04, respectively).Genetic factors that interfere with drug metabolisms are associated with treatment-related toxicities, GvHD and survival after HLA-identical HSCT in patients with leukemia and should be investigated prospectively. 19005482

2009

dbSNP: rs1217691063
rs1217691063
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.040 GeneticVariation BEFREE This study tested the hypothesis that maternal folic acid supplementation before or during pregnancy reduces AL risk, accounting for the SNPs rs1801133 (C677T) and rs1801131 (A1298C) in MTHFR and rs1801394 (A66G) and rs1532268 (C524T) in MTRR, assumed to modify folate metabolism. 22706675

2012

dbSNP: rs1217691063
rs1217691063
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.040 GeneticVariation BEFREE We retrospectively analyzed the incidence of MTHFR C677T and the influence of genotype on methotrexate (MTX) toxicity in patients with acute leukemia undergoing maintenance chemotherapy. 12453860

2002

dbSNP: rs1217691063
rs1217691063
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.040 GeneticVariation BEFREE MTHFR gene polymorphisms, the c. 677C>T and c. 1298A>C have been implicated as risk factors for several types of cancers as the acute leukemia. 28374953

2018

dbSNP: rs1217691063
rs1217691063
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.040 GeneticVariation BEFREE The MTHFR C677T and A1298C polymorphisms are not significant risk factors in adult acute leukemia in the Korean population. 17970089

2007

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE Association of methylenetetrahytrofolate reductase (MTHFR) C677T and A1298C polymorphisms with the susceptibility of childhood acute lymphoblastic leukaemia (ALL) in Chinese population. 24476575

2014

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE A meta-analysis of MTHFR C677T and A1298C polymorphisms and risk of acute lymphoblastic leukemia in children. 21495160

2012

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE No significant difference was detected between responder and non-responders according to MTHFR T677C polymorphism, but the patients who had TT genotype respond 1.75-fold worse than CC (OR, 0.57; 95% CI, 0.07-4.64) in ALL patients (p=0.59), and in DLBCL, CT genotype revealed a 1.8-fold worse response than CC genotype (OR, 0.54; 95% CI, 0.17-1.7), but TT genotype revealed 2.6-fold better response rates than patients with CC genotype (OR, 2.6; 95% CI, 0.26-26.8). 16944145

2006

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE A meta-analysis of case-control studies that investigated the association between the C677T and/or A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and acute lymphoblastic leukemia (ALL) was carried out. 16897583

2006